French national reference center for rare diseases of the skin and mucous membranes of genetic origin (North MAGEC)

The MAGEC center at Necker hospital, coordinated by Professor Christine Bodemer, is an expert structure for genetic diseases with cutaneous expression and their chronic evolution throughout an individual’s life. It is particularly involved in the patient care of rare, severe and complex diseases such as ectodermal dysplasias, epidermolysis bullosa, ichthyosis, incontinentia pigmenti, cutaneous and subcutaneous vascular malformations, Netherton syndrome, pigmentary abnormalities of the skin, etc.

The multidisciplinary MAGEC team (doctors, nurses, physiotherapist, social worker, psychologist) relies on a multidisciplinary platform of excellence in order to take care of the clinical, medico-social and therapeutic education of patients and their families . Professionals are trained for the specificity of these diseases, skin care and the pediatric population.

The Necker site provides hospitalization consultation (day or full). The expertise of team members associated with suitable equipment, such as therapeutic baths, allows better monitoring of patients. The center also conducts several clinical research programs, focused on the diagnosis and implementation of innovative treatments, in the best conditions of safety for patients. It also provides training for young caregivers (medical and paramedical) to sustain the acquired expertise.

The national reference center for genetic diseases with cutaneous expression (MAGEC) coordinated by Pr Smaïl Hadj-Rabia is divided into a multi-site activity: Necker, Cochin, St-Louis, Dijon, Angers and Tours.

This reference center is affiliated with the Fimarad rare diseases healthcare network and the ERN Skin European reference network (ERN) labeled for the treatment of all rare skin diseases. These two networks are coordinated by Pr Christine Bodemer.
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Medical
team

Coordinator
Pr Smaïl Hadj-Rabia
MD, PhD

Co-coordinator
Pr Christine Bodemer
MD, PhD

Contact us

Phone. +33 (0)1 44 49 46 68
or +33 (0)1 44 49 46 52
or +33 (0)1 44 49 43 37

> Send an email

Diseases

Acquired bullous lupus

Acquired bullous lupus is a particular form of lupus marked by bullae and antibodies directed against collagen VII.

Acute generalized exanthematous pustulosis (AGEP)

Acute generalized exanthematous pustulosis (AGEP) is a dermatological disease occurring in the aftermath of drug use. It is a severe toxidermia characterized by the occurrence of fever, red patches predominantly in the folds and pustular lesions. It often occurs within a very short period of time after taking the drug.

Albinism

A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.
> Learn more on Orphanet

Autoimmune Bullous Diseases (ABD)

Auto-immune Bullous Diseases (AIBD) are all bullous diseases in which the lesions observed are the consequence of the fixation of autoantibodies directed against constituents of the skin and/or mucous membranes of the patient.

Autoimmune pemphigus

Autoimmune pemphigus is a bullous disease of the skin and mucous membranes (mouth, internal genitalia, anus, etc.) in which the body produces antibodies against its own skin and/or mucous membranes (autoantibodies) as a result of an immune system dysfunction. They include pemphigus vulgaris, superficial pemphigus and paraneoplastic pemphigus. They should not be confused with Hailey-Hailey pemphigus of genetic origin. The disease is neither hereditary nor contagious. They manifest themselves in the mouth by painful lesions often confused with canker sores and gingivitis. On the skin the bubbles burst easily and form crusts. The diagnosis is made on a skin biopsy and on the search for antibodies in the blood. Treatment is based on cortisone tablets for several years until recovery.

Bazex-Dupré-Christol syndrome

Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.
> Learn more on Orphanet

Bullous pemphigoid

A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.
> Learn more on Orphanet

Café au lait spots

These are spots on the skin. As the name suggests, their color is that of café au lait (light brown), but the color can vary from light beige to dark brown. The shape is most often oval but the edges can be jagged. The size varies from a few millimeters to several centimeters. They can be present everywhere on the body or the face. The arrangement of the spots can be « scattered » or limited to a part of the body. They can be present at birth or appear during life. These spots are very common in the normal population but the presence of a large number of spots should raise the suspicion of a genetic disease, the most common being neurofibromatosis type 1.

Cicatricial pemphigoid

Cicatricial pemphigoid belongs to the group of mucosal pemphigoid diseases. It is a subepithelial autoimmune bullous disease that affects mainly the oral (80-90% of cases), ocular (50-70%), pharyngolaryngeal (8-20%), genital (15%) and esophageal (4%) mucosa. It is rare (1 to 2 new cases per million inhabitants per year in France). An even rarer exclusively cutaneous form has also been described. As its name indicates, it is characterized by the appearance of scars that can have serious consequences on the eyes, larynx and esophagus. Treatment is based on dapsone in mild forms and immunosuppressants in very severe forms.

CLOVES syndrome

CLOVE syndrome (acronym for Congenital Lipomatous Overgrowth, Vascular malformations, and Epidermal nevi) is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.
> Learn more on Orphanet

Costello syndrome

A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.
> Learn more on Orphanet

Cowden syndrome

A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
> Learn more on Orphanet

Cutaneous neuroendocrine (Merkel cell) carcinoma

Merkel cell carcinoma is a skin cancer. It is classified as a rare cutaneous neuroendocrine tumor. It was first described by TOKER in 1972.

Cutis Laxa (CL)

Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
> Learn more on Orphanet

Darier disease

Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.
> Learn more on Orphanet

Dermatitis herpetiformis

A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.
> Learn more on Orphanet

Drug hypersensitivity syndrome

See « DRESS ».

Drug-induced linear IgA dermatosis

A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ).

Drug Reaction with eosinophilia and Systemic Symptoms (DRESS)

A rare hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. Onset usually occurs 2-6 weeks after administration of the causal medication and is most frequently associated with anticonvulsants and sulfonamides but other medications (allopurinol, cyclosporine, azathioprine, gold salts and antiviral agents) have also been implicated.
> Learn more on Orphanet

Dyskeratosis congenita

A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
> Learn more on Orphanet

Dystrophic epidermolysis bullosa

A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB.
> Learn more on Orphanet

Ectodermal dysplasia syndrome

The term »ectodermal dysplasia » defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
> Learn more on Orphanet

Ehlers-Danlos syndrome

A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.
> Learn more on Orphanet

Epidermolysis bullosa acquisita

A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient’s serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.
> Learn more on Orphanet

Epidermolysis bullosa simplex

A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
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Erythema multiforme major

A rare skin disease characterized most typically by targetoid papules with concentric color variation symmetrically distributed on the extensor surfaces of the extremities, accompanied by mucosal involvement (in particular the oral mucosa) in the form of initial erythema with edema, progressing to superficial erosions with pseudomembrane formation. Grouping of lesions around the elbows and knees and edema of the nail folds may also be observed. The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, although recurrent disease is seen in a subset of patients.
> Learn more on Orphanet

Familial benign chronic pemphigus

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).
> Learn more on Orphanet

Fixed erythema pigmentosum

Fixed erythema pigmentosum is a dermatological disease occurring after taking a drug. It is therefore a toxidermia characterized by the occurrence of well-defined, rounded patches of cutaneous or mucous topography, sometimes bullous, leaving a pigmented scar. In case of re-exposure to the responsible molecule, the toxidermia recurs at the same sites.

Generalized bullous fixed erythema pigmentosum

Generalized bullous fixed erythema pigmentosum is a dermatological disease occurring in the aftermath of taking a drug, with a detached surface of more than 10%. It is therefore a toxidermia characterized by the occurrence of well-defined, rounded patches of cutaneous or mucous topography, sometimes bullous, leaving a pigmented scar.
In case of re-exposure to the responsible molecule, the toxidermia recurs at the same sites.

Genodermatoses

Genodermatoses are genetic diseases that are strongly expressed in the skin. Depending on the genetic abnormality and the abnormal proteins responsible for the disease, other organs may also be affected. There are a large number of different genodermatoses (around 400), although each of these disease groups is rare. The prevalence of genodermatoses (number of cases of these diseases present at a given time in the population), all together, is between 1 in 6,000 and 1 in 500,000. Most frequently, they appear at birth or very early in life, sometimes severely affecting children. Genodermatoses are rare diseases and can sometimes be life threatening. They have a great impact on the quality of life of patients and their families: social exclusion, disability, short life expectancy for many of them.

Genodermatoses predisposing to cancer

Genodermatoses predisposing to cancer constitute a large group of often rare dermatological conditions or conditions with a dermatological presentation, which are associated with a high frequency to the occurrence of cutaneous and/or visceral malignant tumors. They are little or poorly known, which results in a delay in diagnosis that is detrimental to the prevention and detection of possible associated neoplasia. However, the mode of entry of these genodermatoses can be diagnosed in many cases during a dermatology consultation.

Gorlin syndrome

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
> Learn more on Orphanet

Hereditary and acquired angioedema

The most common bradykin mediated angioedema is associated with a hereditary or acquired C1 inhibitor deficiency. They are responsible for swelling of the face, ENT area, extremities, genitals and painful intestinal swellings. They should be distinguished from histamine-induced angioedema because their therapeutic management is very different. Several conditions not related to C1-inhibitor deficiency are being described.

Hereditary ichthyosis

Hereditary ichthyosis is a group of diseases in which patients have scales (dead skin) all over the body, sometimes associated with other skin abnormalities such as generalized redness. Sometimes there may also be abnormalities affecting other organs (in so-called syndromic forms). All ichthyoses are genetic diseases due to mutations of genes involved in the formation of the skin, which can no longer play its role as a natural barrier.

Hereditary lymphoedema

Lymphoedema can be constitutional, due to a genetic abnormality or a neo-mutation, or secondary, due to acquired damage to the lymphatic system (traumatic, inflammatory, cancer treatment). Hereditary lymphedema sometimes appears in childhood, but more often in adolescence or in young adults. The diagnosis is clinical, supported by imaging techniques (ultrasound, lymphoscintigraphy, MRI). Treatment aims to reduce edema and improve quality of life. It is based on compression, manual lymphatic drainage, physical activities and prevention instructions (infections, weight gain).

Hyperpigmentation

This term means that there is a change in skin color that is darker than normal skin. This color change is usually localized. The diagnoses corresponding to this hyperpigmentation are for example café au lait spots, ephelides, nevus (moles), pigmentary mosaicism etc…

Hypopigmentation

Apart from albinism, many conditions may present with one or more white spots or patches on the skin, reflecting an abnormality of the pigmentary system. In particular, certain genetic diseases can be revealed by hypopigmentation (piébaldism, tuberous sclerosis of Bourneville, Waardenburg syndrome or hypomelanosis of Ito among others). For these conditions, it is important to consult for a precise diagnosis on which the proper management of the patient is based, which frequently includes molecular diagnosis.

Hypotrichosis simplex

Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
> Learn more on Orphanet

Incontinentia pigmenti

An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko’s lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.
> Learn more on Orphanet

Ichthyosis follicularis-alopecia-photophobia syndrome

Ichthyosis follicularis – alopecia – photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.
> Learn more on Orphanet

Inherited epidermolysis bullosa

Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
> Learn more on Orphanet

Junctional epidermolysis bullosa

A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.
> Learn more on Orphanet

Large congenital melanocytic nevus

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm – or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.
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Lichen planus pemphigoides

Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.
> Learn more on Orphanet

Linear IgA dermatosis

Linear IgM dermatosis

IgM autoimmune bullous diseases are defined by the presence of a deposit of IgM class autoantibodies at the epidermis-dermis junction in the skin and/or epithelium-chorion in the mucous membranes. They are exceptional. Like the linear IgA diseases, they form a heterogeneous group.

Lyell syndrome / Stevens-Johnson syndrome (SJS)

Lyell syndrome is an extensive form of toxic epidermal necrolysis characterized by destruction and detachment of the epithelium of the skin and mucous membranes over more than 30% of the total body surface.

Mucous membrane pemphigoid

A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.
> Learn more on Orphanet

Netherton syndrome

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
> Learn more on Orphanet

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
> Learn more on Orphanet

Neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a rare genetic disease different from NF1. The main risk is hearing and balance disorders due to ear damage. There is a risk of meningeal tumors (meningioma).

Olmsted syndrome

Olmsted syndrome is characterized by the development of thick keratotic plaques on the soles of the feet and palms of the hands (palmoplantar keratoderma) which may be oozing and periorificial (especially around the mouth). Other different clinical manifestations may be associated, varying according to the family. It is a rare genetic disease, orphaned (with no curative treatment at present), of generally autosomal dominant or X-linked recessive transmission with still many unknowns. Treatments are symptomatic, aiming to reduce hyperkeratosis, to reduce pain if necessary and to ensure the best fine motor skills.
> Learn more on Orphanet

Pachyonychia congenita

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
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Palmoplantar keratoderma (PPK)

Hereditary plantar keratodermas are a heterogeneous group of diseases (limited to the skin or associated with the involvement of other organs) which have in common a localized or diffuse thickening of the skin of the palms and soles, associated or not with signs of inflammation (redness, fissures, itching). The aesthetic or functional discomfort (pain, retraction of fingers) can be very important, requiring local or systemic treatments.

Paraneoplastic pemphigus

A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.
> Learn more on Orphanet

Pemphigoid gestationis

A rare autoimmune bullous skin disease characterized by pruritus with or without polymorphic skin eruption, affecting pregnant women typically during the second and third trimester.
> Learn more on Orphanet

Pemphigus vulgaris

A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.
> Learn more on Orphanet

Poikilodermas

Poikiloderma is a skin condition that combines epidermal atrophy (a decrease in the thickness of the surface layer of the skin), dyschromia (abnormal skin pigmentation) and telangiectasia (dilation of small skin vessels, forming small red lines). There are two forms of poikiloderma: congenital poikiloderma and acquired poikiloderma. Congenital poikiloderma is rare and can be seen in childhood. It is hereditary and its transmission is classically autosomal recessive (both parents are affected by the genetic anomaly even if they do not have the disease themselves) with an appearance in neonatal or early childhood. Different genodermatoses, linked to genetic anomalies involving different proteins, can be responsible for poikiloderma. It is thus only one of the clinical manifestations of these various diseases. It is the set of associated clinical signs and the family history that allow to better diagnose which disease the patient’s poikiloderma is part of and to orient the molecular research (genetic anomaly responsible for the disease). Acquired poikiloderma appears later in life, often in adulthood, and corresponds to a heterogeneous group of dermatological diseases that are often not genodermatoses.

Primary erythromelalgia

Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.
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Pseudoxanthoma elasticum

A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.
> Learn more on Orphanet

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
> Learn more on Orphanet

Superficial pemphigus

A rare, autoimmune, bullous skin disease characterized clinically by multiple soft blisters usually appearing on the face, scalp, trunk, and extremities and rapidly progressing to pruritic, scaly, crust-forming skin erosions. Histopathologically, superficial acantholytic blisters are seen in the upper epidermis, as well as deposits of IgG autoantibodies to desmoglein 1 (and sometimes desmoglein 3).
> Learn more on Orphanet

Toxic epidermal necrolysis

Toxic epidermal necrolysis or Stevens Johnson syndrome and Lyell syndrome are rare and severe toxidermia characterized by bullous lesions of cutaneous or mucous topography. These syndromes correspond to the same disease and are differentiated only by the percentage of surface affected. (Lyell syndrome > 30%, overlap syndrome between 10 and 30%, Stevens Johnson syndrome <10%). They occur within 4 to 28 days after taking a drug in most cases.
> Learn more on Orphanet

Toxidermias

These are dermatological manifestations corresponding to a side effect of a drug.

Trichothiodystrophy (TTD)

Trichothiodystrophy (TTD) is a rare and probably under-diagnosed disease. It is defined by an abnormality of the hair that can be diagnosed simply with a microscopic examination with two polarizing lenses. An assay of sulfur amino acids can confirm the diagnosis if the level of cysteine is lowered. The majority of patients have an XPD gene abnormality and an in vitro DNA repair abnormality, but no exacerbated photosensitivity like patients with xeroderma pigmentosum or premature skin cancers. Follow-up and check-ups will depend on the severity of the disease. Specialized care is desirable if there is a deficit in psychomotor acquisition or in a particular organ and the patient should be referred to a referral practitioner (neuropediatrics, cardiopediatrics, orthopedics, etc.). The dermatological picture rarely requires specialized management. A fertility assessment and a prenatal diagnosis should be planned in adulthood if a procreation project is in view.

Tuberous sclerosis complex

A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.
> Learn more on Orphanet

Vascular tumors and malformations

Vascular anomalies or angiomas include tumors that correspond to proliferative or hyperplastic lesions, and malformations, which correspond to developmental abnormalities, or dysplasia, of one or more types of vessels, in association or not with abnormalities of other tissues. The most frequent vascular tumor is the infantile hemangioma, it is a benign tumor spontaneously involutive without any sequelae in most cases. Some complicated forms may require specific treatment. Other rarer tumors are congenital hemangiomas and tumors potentially associated with the Kasabach-Merritt phenomenon (deep thrombocytopenia), which are called tufted angioma and kaposiform hemangioendothelioma. Vascular malformations can affect all types of vessels (veins, arteries, lymphatics, capillaries) in isolation or in association: complex vascular malformation. They most often affect the skin and muscles, but visceral or central nervous system localizations are possible in some cases. Vascular malformations may be associated with other tissue abnormalities, particularly in hypertrophic syndromes. Most vascular anomalies are not hereditary, but familial forms exist for some types of vascular malformations. To date, there is no curative treatment for vascular malformations, which management is adapted to the symptomatology.

Vitiligo

Vitiligo is a skin disease characterized by the appearance of white, depigmented spots that increase in size and number over time. The word « vitiligo » comes from the Latin vitiligo, which means « white spot ».
Be careful! Vitiligo is not rare in Europe and is no longer included in the Orphanet classification.

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).
> Learn more on Orphanet

Reference center medical team

Physicians

Head of the reference center
Pr Smaïl Hadj Rabia
MD, PhD

Co-head of the reference center
Pr Christine Bodemer
MD, PhD

Dr Nathalia Bellon
MD

Dr Olivia Boccara
MD

Dr Anne Welfringer Morin
MD

Dr Léa Jaume
MD

Dr Julie Bonigen
MD

Dr Laura Polivka
MD

Pain physician

Dr Céline Greco
MD, PhD

Reference center paramedical team

Nurse

Isabelle Corset

TPE pediatric nurse

Hélène Le Goff

Psychologist

Sarah Dimarcq

Physiotherapists

Manuela Ingremeau

Occupational therapist

Elodie Deladrière-Passignat

Psychomotor therapist

Elodie Riback

MAGEC project manager

Maryam Hammouche

Research project manager

Wiam Bhia

Socio-educational project manager

Hélène Dufresne

Therapeutic patient education (TPE)

Flyer epidermolyse bulleuse-Eng ETP MAGEC

Flyer Xeroderma Pigmentosum-Eng ETP MAGEC

Therapeutic patient education (TPE)

The MAGEC Paris reference center offers patients and their families the opportunity to participate in a therapeutic education program.

Our team runs five programs dedicated to rare skin diseases :

TPE : what are we talking about ?

Therapeutic patient education (TPE) was defined in a WHO (World Health Organization) report in 1996: « It aims to help patients acquire or maintain the skills they need to manage their lives with a chronic disease. It is an integral and permanent part of patient management. This is to help them (and their families) understand their disease and treatment, work together and take responsibility for their own care, in order to help them maintain and improve their quality of life. »

TPE is patient-centered, not disease-centered, and helps patients live better with their chronic disease on a daily basis.

A TPE session is different from a consultation because it is not simply a matter of delivering information to the patient but of involving him/her so that he/she can acquire knowledge and skills about his/her disease and its management in a personalized way. In this way, the patient will be able to maintain or improve his/her health and quality of life. Daily life is an essential dimension of TPE.

In concrete terms, what will MAGEC offer me in this program ?

Depending on your choice, you will be able to benefit from individual and/or group sessions with other families concerned by the same issues.

Our programs are built around a pathway with a majority of ten individual sessions. On average, each patient benefits from 3 to 4 sessions per year. The patient can progress at his or her own pace in the program, and leave or resume the program at any time.

How do I access or receive information about the programs ?

> Consult the therapeutic education pathway sheet

National diagnostic and care protocols (PNDS)

PNDS

Care protocols

You will find here all the care protocols written by the MAGEC center available for consultation or to download.

For any treatment protocol request, please click here or here

Main current research studies

As a reference center, Necker’s MAGEC site participates in clinical and scientific research programs.

Necker’s MAGEC site has an important clinical research activity carried out in the dermatology department. It coordinates and participates in clinical research projects in partnership with academic institutions as well as the pharmaceutical industry for innovative therapeutics and post-marketing registries.

With the help of the Imagine Institute, a clinical research team composed of an investigation project manager, a clinical research technician and a mobile clinical research nurse, intervene upstream to study the feasibility of the trial, with the trial investigator, set up and start up the studies, help select patients, increase the number of inclusions and manage the clinical trials on a daily basis.

Industrial clinical research

HOLOGENE 5 : Open-label, Pivotal Clinical Trial to Confirm Efficacy and Safety of Autologous Grafts Containing Stem Cells Genetically Modified for Epidermis Restoration in Patients With Junctional Epidermolysis Bullosa – coming soon

EDELIFE : A multicenter, prospective, open-label, genotype-matched, phase II study to evaluate the efficacy and safety of intra-amniotic ER004 as a prenatal treatment for male patients with X-linked hypohidrotic ectodermal dysplasia (DEHLX) – ongoing

CANNABINOL : (INM-755) : Randomized, double-blind, placebo-controlled, phase II study of topical INM-755 (cannabinol) in patients with epidermolysis bullosa – closed

JELLAGEB : Pre-clinical evaluation of the efficacy of a jellyfish collagen on skin biopsies in patients with epidermolysis bullosa – closed

TIMBER : A Phase III, Multicenter, Double Blinded Vehicle Controlled Study of TMB-001 – with a Parallel Optional Maximal Use Arm – in the Treatment of RXLI (Xlinked) or ARCI Ichthyosis in Subjects Aged 6 Years – ongoing

Allo-APZ2-EB-III : A double-blind, randomized, placebo-controlled, interventional, multicenter, phase III clinical trial to investigate the safety and efficacy of ABCB5-positive mesenchymal stromal cells (ABCB5+ MSCs) on epidermolysis bullosa (EB) – coming soon

Clinuvel : A Proof of Concept, Phase IIa, Open Label Study to Evaluate the Safety and Efficacy of Subcutaneous Implants of Afamelanotide in Patients with Xeroderma Pigmentosum C and V (XPC and XPV) – coming soon

MATHBULL_OTR3 : A Randomized, Double-Blind, Placebo-controlled, Crossover, Pilot stage clinical trial Evaluating CACIPLIQ20 in Wound healing in Subjects with Epidermolysis Bullosa – coming soon

Clinical research academic promotion

TOPICAL : Cutaneous microcystic lymphatic skin malformation: Phase II randomized, double-blind, intra-individual versus vehicle comparison therapeutic trial – ongoing

NS-DUPI: Randomized pilot study on the efficacy and safety of dupilumab versus placebo in patients with Netherton syndrome – ongoing

Clinical study evaluating the efficacy of canabidiol (CBD) on pain in children with RDEB (Monocentric) – coming soon

Evaluation of the socio economic Burden of EB in 6 European countries Grant EJP RD JTC 2021 : Social sciences and Humanities Research to improve health care implementation and everyday life of people living with a rare disease” – coming soon

DEH-Somno : Impact of temperature dysregulation on sleep in patients with hypohidrotic ectodermal dysplasia – ongoing

Education

Inter-university diploma in pediatric dermatology

Publications

2023

– DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F.
Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486.PMID: 36952639

– Molecular and clinicopathologic characterization of pediatric histiocytoses.
Hélias-Rodzewicz Z, Donadieu J, Terrones N, Barkaoui MA, Lambilliotte A, Moshous D, Thomas C, Azarnoush S, Pasquet M, Mansuy L, Aladjidi N, Jeziorski E, Marec-Berard P, Gilibert-Yvert M, Spiegel A, Saultier P, Pellier I, Pagnier A, Pertuisel S, Poiree M, Bodet D, Millot F, Isfan F, Stephan JL, Leruste A, Rigaud C, Filhon B, Carausu L, Reguerre Y, Kieffer I, Brichard B, Ben Jannet R, Bakari M, Idbaih A, Bodemer C, Cohen-Aubart F, Haroche J, Tazi A, Boudjemaa S, Fraitag S, Emile JF, Heritier S; French Histiocytosis Study Group.
Am J Hematol. 2023 Jul;98(7):1058-1069. doi: 10.1002/ajh.26938. Epub 2023 Apr 28.PMID: 37115038

– JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D’ Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, Pillet P, Polivka L, Schiff M, Todosi C, Uettwiller F, Lepelley A, Rice GI, Seabra L, Sanquer S, Hulin A, Pressiat C, Goldwirt L, Bondet V, Duffy D, Moshous D, Bader-Meunier B, Bodemer C, Robin-Renaldo F, Boddaert N, Blanche S, Desguerre I, Crow YJ, Neven B.
J Clin Immunol. 2023 Aug;43(6):1436-1447. doi: 10.1007/s10875-023-01500-z. Epub 2023 May 12.PMID: 37171742

– Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study.
Kern JS, Sprecher E, Fernandez MF, Schauer F, Bodemer C, Cunningham T, Löwe S, Davis C, Sumeray M, Bruckner AL, Murrell DF; EASE investigators.
Br J Dermatol. 2023 Jan 23;188(1):12-21. doi: 10.1093/bjd/ljac001.PMID: 36689495 Clinical Trial.

– Ocular sequelae of epidermal necrolysis: French national audit of practices, literature review and proposed management.
Thorel D, Ingen-Housz-Oro S, Benaïm D, Daien V, Gabison E, Saunier V, Béral L, Touboul D, Brémond-Gignac D, Robert M, Vasseur R, Royer G, Dereure O, Milpied B, Bernier C, Welfringer-Morin A, Bodemer C, Cordel N, Tauber M, Burillon C, Servant M, Couret C, Vabres B, Tétart F, Cassagne M, Kuoch MA, Muraine M, Delcampe A, Gueudry J.
Orphanet J Rare Dis. 2023 Mar 11;18(1):51. doi: 10.1186/s13023-023-02616-6.PMID: 36906580

– Comparison of idiopathic and drug-induced epidermal necrolysis in children.
Welfringer-Morin A, Bataille P, Drummond D, Bellon N, Ingen-Housz-Oro S, Bonigen J, Schmartz S, Giraud-Kerleroux L, Moulin F, De Saint Blanquat L, Bremond-Gignac D, Hadj-Rabia S, Bodemer C.
Br J Dermatol. 2023 Oct 25;189(5):631-633. doi: 10.1093/bjd/ljad226.PMID: 37410549

– French data on the epidemiology and expert healthcare network for epidermolysis bullosa.
Bodemer C, Soussand L, Sandrin A, Khatim A, Sauvestre A, Elarouci N, Jannot AS.
J Eur Acad Dermatol Venereol. 2023 May;37(5):e597-e599. doi: 10.1111/jdv.18826. Epub 2023 Jan 17.PMID: 36545933

– Severe tracheal involvement in type XVII collagen junctional epidermolysis bullosa.
Bozonnat A, Polivka L, Leclerc-Mercier S, Luscan R, Charbit-Henrion F, Bodemer C, Lapillonne A, Hadj-Rabia S.
Br J Dermatol. 2023 Mar 30;188(4):564-566. doi: 10.1093/bjd/ljac135.PMID: 36763777

– Respiratory complications in pediatric epidermal necrolysis: A retrospective study of 22 cases.
Schmartz S, Welfringer-Morin A, Le Bourgeois M, Delacourt C, Berteloot L, Rabia SH, Bellon N, Moulin F, Pouletty M, Garcelon N, Bodemer C, Drummond D.
J Am Acad Dermatol. 2023 Oct;89(4):857-859. doi: 10.1016/j.jaad.2023.05.092. Epub 2023 Jun 23.PMID: 37355226 No abstract available.

– PRIMA-1^MET/APR-246 Can Partially Rescue In Vitro Cell Adhesion of Patient-Derived Junctional Epidermolysis Bullosa Epidermal Cells.
Berthy C, Gagnoux-Palacios L, Madrange M, Bodemer C, Cagnard N, Hadj-Rabia S, Petit I, Aberdam D.
J Invest Dermatol. 2023 Sep 16:S0022-202X(23)02586-1. doi: 10.1016/j.jid.2023.08.021. Online ahead of print.PMID: 37722653 No abstract available.

– Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes.
Polivka L, Madrange M, Bulai-Livideanu C, Barete S, Ballul T, Neuraz A, Greco C, Agopian J, Brenet F, Dubreuil P, Burdet C, Lemal R, Tournilhac O, Terriou L, Launay D, Bouillet L, Gourguechon C, Damaj G, Frenzel L, Meni C, Bouktit H, Collange AF, Gaudy-Marqueste C, Gousseff M, Le Mouel E, Hamidou M, Neel A, Ranta D, Jaussaud R, Guilpain P, Canioni D, Molina TJ, Bruneau J, Lhermitte L, Garcelon N, Javier RM, Pelletier F, Castelain F, Retornaz F, Cabrera Q, Zunic P, Gourin MP, Wierzbicka-Hainaut E, Viallard JF, Lavigne C, Hoarau C, Durieu I, Heiblig M, Dimicoli-Salazar S, Torregrosa-Diaz JM, Soria A, Arock M, Lortholary O, Bodemer C, Hermine O, Rossignol J; CEREMAST network.
J Allergy Clin Immunol. 2023 Aug 24:S0091-6749(23)01068-0. doi: 10.1016/j.jaci.2023.08.015. Online ahead of print.PMID: 37633651

– The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.
Dufresne H, Maincent O, Taieb C, Bodemer C, Hadj-Rabia S.
Acta Derm Venereol. 2023 Aug 30;103:adv5203. doi: 10.2340/actadv.v103.5203.PMID: 37646348

– Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.
Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, Tadini G, Stepan H, Clarke A, Guillén-Navarro E, Maier-Wohlfart S, Bouroubi A, Porte F.
Genes (Basel). 2023 Jan 6;14(1):153. doi: 10.3390/genes14010153.PMID: 36672894

– Respiratory complications in pediatric epidermal necrolysis: A retrospective study of 22 cases.
Schmartz S, Welfringer-Morin A, Le Bourgeois M, Delacourt C, Berteloot L, Rabia SH, Bellon N, Moulin F, Pouletty M, Garcelon N, Bodemer C, Drummond D.
J Am Acad Dermatol. 2023 Oct;89(4):857-859. doi: 10.1016/j.jaad.2023.05.092. Epub 2023 Jun 23.PMID: 37355226

– The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.
Dufresne H, Maincent O, Taieb C, Bodemer C, Hadj-Rabia S.
Acta Derm Venereol. 2023 Aug 30;103:adv5203. doi: 10.2340/actadv.v103.5203.PMID: 37646348

– Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P.
Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14.PMID: 37580112

– A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.
Schneider H, Schweikl C, Faschingbauer F, Hadj-Rabia S, Schneider P.
Int J Mol Sci. 2023 Apr 12;24(8):7155. doi: 10.3390/ijms24087155.PMID: 37108325

– Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Michaud V, Sequeira A, Mercier E, Lasseaux E, Plaisant C, Hadj-Rabia S, Whalen S, Bonneau D, Dieux-Coeslier A, Morice-Picard F, Coursimault J, Arveiler B, Javerzat S.
Pigment Cell Melanoma Res. 2023 Aug 31. doi: 10.1111/pcmr.13123. Online ahead of print.PMID: 37650133

2022

– Challenges in Treating Genodermatoses: New Therapies at the Horizon.
Marie-Anne Morren, Eric Legius, Fabienne Giuliano, Smail Hadj-Rabia, Daniel Hohl, Christine Bodemer
Front Pharmacol, 2022 Jan 5, PMID: 35069188 PMCID: PMC8766835 DOI: 10.3389/fphar.2021.746664

– Central nervous system screening in capillary malformation-arteriovenous malformation syndrome: An observational study.
Olivia Boccara, Juliette Mazereeuw, Ludovic Martin, Didier Bessis, Thomas Hubiche, Christine Chiaverini, Anne Dompmartin, Stéphanie Mallet, Juliette Miquel, Hélène Aubert
J Am Acad Dermatol, 2022 Oct, PMID: 34954287 DOI: 10.1016/j.jaad.2021.12.030

2021

– Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature.
C Bodemer, P Steijlen, J Mazereeuw-Hautier, E A O’Toole
Br J Dermatol, 2021 Mar, PMID: 32307694 DOI: 10.1111/bjd.19144

– The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.
N Bellon, S Hadj-Rabia, F Moulin, C Lambe, G Lezmi, F Charbit-Henrion, C Alby, L Le Saché-de Peufeilhoux, S Leclerc-Mercier, A Hadchouel, J Steffann, A Hovnanian, A Lapillonne, C Bodemer
Br J Dermatol, 2021 Mar, PMID: 32479644 DOI: 10.1111/bjd.19265

– Management of albinism: French guidelines for diagnosis and care.
E Moreno-Artero, F Morice-Picard, D Bremond-Gignac, I Drumare-Bouvet, C Duncombe-Poulet, S Leclerc-Mercier, H Dufresne, J Kaplan, B Jouanne, B Arveiler, A Taieb, S Hadj-Rabia
J Eur Acad Dermatol Venereol, 2021 Jul, PMID: 34042219 DOI: 10.1111/jdv.17275

– Development and co-construction of a therapeutic patient education program for albinism.
H Dufresne, A de Longcamp, S Compain, F Morice-Picard, E Deladrière, L Bekel, C Godot, M Rateaux, M Godeau, B Jouanne, C Bodemer, D Bremond-Gignac, M P Robert, S Hadj-Rabia
Ann Dermatol Venereol, 2021 Dec, PMID: 34217528 DOI: 10.1016/j.annder.2021.03.005

– Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama.
Marine Cascarino, Stéphanie Leclerc-Mercier
Dermatopathology (Basel), 2021 Jul 4, PMID: 34287284 PMCID: PMC8293214 DOI: 10.3390/dermatopathology8030029

– Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for Rare Skin Diseases.
C Has, M El Hachem, H Bučková, P Fischer, M Friedová, C Greco, P Nevoránková, C Salavastru, J E Mellerio, G Zambruno, C Bodemer
J Eur Acad Dermatol Venereol, 2021 Dec, PMID: 34545960 DOI: 10.1111/jdv.17629

– The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Angela Filoni, Carmelo Schepis, Maddalena Siragusa, Iria Neri, Annalucia Virdi, Daniele Castiglia, Giovanna Zambruno, Christine Bodemer, May El Hachem
Acta Derm Venereol, 2021 Jun 22, PMID: 33954798 PMCID: PMC9380281 DOI: 10.2340/00015555-3822

– Efficacy of topical ropivacaine in children and young adults with hereditary epidermolysis bullosa.
E Moreno Artero, N Schinkel, S Chaumon, I Corset, T Rabeony, C Elie, N Bellon, C Bodemer, C Greco
Br J Dermatol, 2021 Mar, PMID: 32939751 DOI: 10.1111/bjd.19551

– Major response to imatinib and chemotherapy in a newborn patient prenatally diagnosed with generalized infantile myofibromatosis.
Stéphanie Proust, Gabriel Benchimol, Sylvie Fraitag, Julie Starck, Vannina Giacobbi, Gaelle Pierron, Christine Bodemer, Daniel Orbach
Pediatr Blood Cancer, 2021 Jan, PMID: 32896962 DOI: 10.1002/pbc.28576

2020

– Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.
C. Bodemer,A. Diociaiuti,S. Hadj-Rabia,M.P. Robert,I. Desguerre,M.-C. Manière,M. de la Dure-Molla,P. De Liso,M. Federici,A. Galeotti,F. Fusco,S. Fraitag,C. Demily,C. Taieb,M. Valeria Ursini,M. El Hachem,J. Steffann,
J Eur Acad Dermatol Venereol, 2020 Jul, PMID: 32678511 DOI: 10.1111/jdv.16403

– Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome.
Anne Welfringer-Morin MD,Graziella Pinto MD,Geneviève Baujat MD,Yoann Vial PharmD,Smail Hadj-Rabia MD, PhD,Christine Bodemer MD, PhD,Olivia Boccara MD
Pediatr Dermatol, 2020 May, PMID: 32157705 DOI: 10.1111/pde.14139

– Efficacy and satisfaction of surgical treatment for hidradenitis suppurativa.
L. Fertitta,C. Hotz,P. Wolkenstein,J.P. Méningaud,D. Sawan,B. Hersant,E. Sbidian,
J Eur Acad Dermatol Venereol, 2020 Apr, PMID: 31799758 DOI: 10.1111/jdv.16135

– Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.
Jemima E. Mellerio, Maya El Hachem, Nathalia Bellon, Giovanna Zambruno, Hana Buckova, Rudolf Autrata, Carmen Salavastru, Tamara Caldaro, Celine Greco, Cristina Has & Christine Bodemer
Orphanet J Rare Dis, 2020 Jun 6, PMID: 32505191 PMCID: PMC7276067 DOI: 10.1186/s13023-020-01403-x

– Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.
Maleha S Alsafri, Fabienne Charbit-Henrion, Florence Lacaille, Emmanuelle Bourrat, Julie Steffann, Smail Hadj-Rabia
Acta Derm Venereol, 2020 Jun 11, PMID: 32424433 DOI: 10.2340/00015555-3522

– [Paediatric social work and genodermatosis: Practices and specificities].
H Dufresne, S Hadj-Rabia, C Bodemer
Ann Dermatol Venereol, 2020 Sep, PMID: 32327196 DOI: 10.1016/j.annder.2020.02.012

– An unsual case of palmoplantar keratoderma.
Pauline Bataille MD,Anne Welfringer-Morin MD,Stéphanie Leclerc-Mercier MD,Smail Hadj-Rabia MD, PhD,Christine Bodemer MD, PhD,
Pediatr Dermatol, 2020 Jan, PMID: 31997441 DOI: 10.1111/pde.14038

– Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1 MET/APR-246.
Edith Aberdam, Lauriane N. Roux, Philippe-Henri Secrétan, Franck Boralevi, Joël Schlatter, Fanny Morice-Picard, Stefano Sol, Christine Bodemer, Caterina Missero, Salvatore Cisternino, Daniel Aberdam & Smail Hadj-Rabia
Cell Death Dis, 2020 Jan 16, PMID: 31949132 PMCID: PMC6965199 DOI: 10.1038/s41419-020-2223-8

– Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.
Céline Greco, Stéphanie Leclerc-Mercier, Sarah Chaumon, François Doz, Smail Hadj-Rabia, Thierry Molina, Claude Boucheix, Christine Bodemer
JAMA Dermatol, 2020 Feb 1, PMID: 31895432 PMCID: PMC6990711 DOI: 10.1001/jamadermatol.2019.4126

– Clinical variability and probable founder effect in oculocutaneous albinism type 7.
Pauline Bataille,Vincent Michaud,Matthieu P. Robert,Lilia Bekel,Stéphanie Leclerc-Mercier,Annie Harroche,Charlotte Célérier,Eulalie Lasseaux,Delphine Borgel,Dominique Bremond-Gignac,Christine Bodemer,Benoit Arveiler,Smaïl Hadj-Rabia
Clin Genet, 2020 Mar, PMID: 31694064 DOI: 10.1111/cge.13655

– Neonatal and self-healing linear immunoglobulin A dermatosis.
L. Giraud,A. Welfringer-Morin,O. Boccara,A. Frassati-Biaggi,S. Leclerc-Mercier,S. Grootenboer-Mignot,C. Bodemer,S. Hadj-Rabia
J Eur Acad Dermatol Venereol, 2020 Feb, PMID: 31574167 DOI: 10.1111/jdv.15989

– Paediatric social work and genodermatosis: Practices and specificities
H Dufresne, S Hadj-Rabia, C Bodemer
Ann Dermatol Venereol, 2020 Sep, PMID: 32327196 DOI: 10.1016/j.annder.2020.02.012

2019

– Incontinentia pigmenti burden scale: designing a family burden questionnaire.
Taieb C, Hadj-Rabia S, Monnet J, Bennani M, Bodemer C; Filière Maladies Rares en Dermatologie.
Orphanet J Rare Dis. 2019 Nov 26;14(1):271.

– A focus on rare and undiagnosed skin diseases.
Bauer JW, Schmuth M, Bodemer C.
Exp Dermatol. 2019 Oct;28(10):1103-1105.

– P63-related disorders: Dermatological characteristics in 22 patients.
Maillard A, Alby C, Gabison E, Doan S, Caux F, Bodemer C, Hadj-Rabia S.
Exp Dermatol. 2019 Oct;28(10):1190-1195.

– Does surgery of lymphatic malformations lead to an increase in superficial lymphangiectasia? A retrospective study of 43 patients.
Schreiber A, Soupre V, Kadlub N, Galliani E, Picard A, Chrétien-Marquet B, Pannier S, Guéro S, Khen-Dunlop N, Hadj-Rabia S, Delanoe P, Bodemer C, Boccara O.
Br J Dermatol. 2019 Dec;181(6):1324-1325.

– Mechanism of Oleogel-S10: A triterpene preparation for the treatment of epidermolysis bullosa.
Schwieger-Briel A, Ott H, Kiritsi D, Laszczyk-Lauer M, Bodemer C.
Dermatol Ther. 2019 Jul;32(4): 12983.

– Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool.
Armand ML, Taieb C, Bourgeois A, Bourlier M, Bennani M, Bodemer C, Wolkenstein P; along with the French national network on rare skin diseases (FIMARAD).
Orphanet J Rare Dis. 2019 May 3;14(1):94.

– Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Güven Y, Bal E, Altunoglu U, Yücel E, Hadj-Rabia S, Koruyucu M, Bahar Tuna E, Çıldır Ş, Aktören O, Bodemer C, Uyguner ZO, Smahi A, Kayserili H.
Cytogenet Genome Res. 2019;157(4):189-196.

– Palmoplantar keratoderma: creating a disease burden questionnaire.
Hickman G, Bodemer C, Bourrat E, Bennani M, Taieb C.
J Eur Acad Dermatol Venereol. 2019 Aug;33(8):291-293

– Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses.
El Hachem M, Abeni D, Diociaiuti A, Rotunno R, Gesualdo F, Zambruno G, Bodemer C.
Ital J Pediatr. 2019 Feb 19;45(1):26.

– Late ulceration of residual abortive infantile haemangioma: a rare complication.
Welfringer-Morin A, Fraitag S, Balguerie X, Laaengh-Massoni C, Leclerc-Mercier S, Hadj-Rabia S, Bodemer C, Boccara O.Br J
Dermatol. 2019 Aug;181(2):395-396.

– Long-term evolving profile of childhood autoimmune blistering diseases: Retrospective study on 38 children.
Welfringer-Morin A, Bekel L, Bellon N, Gantzer A, Boccara O, Hadj-Rabia S, Leclerc-Mercier S, Frassati-Biaggi A, Fraitag S, Bodemer C.J
Eur Acad Dermatol Venereol. 2019 Jun;33(6):1158-1163

– Management of congenital ichthyoses: European guidelines of care, part one.
Mazereeuw-Hautier J, Vahlquist A, Traupe H, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljc M, Dreyfus I, El Hachem M, Fischer J, Gånemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, O’Toole EA, Oji V, Hernandez-Martin A.
Br J Dermatol. 2019 Feb;180(2):272-281.

– More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM.
J Am Acad Dermatol. 2019 Mar;80(3):617-625.

– ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Beyens A, Moreno-Artero E, Bodemer C, Cox H, Gezdirici A, Yilmaz Gulec E, Kahloul N, Khau Van Kien P, Ogur G, Harroche A, Vasse M, Salhi A, Symoens S, Hadj-Rabia S, Callewaert B.
Exp Dermatol. 2019 Oct;28(10):1142-1145.

– Management of congenital ichthyoses: European guidelines of care, part two.
Mazereeuw-Hautier J, Hernández-Martín A, O’Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljč M, Dreyfus I, El Hachem M, Fischer J, Ganemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, Vahlquist A, Traupe H, Oji V.
Br J Dermatol. 2019 Mar;180(3):484-495

– Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D’Souza RN, Sybert VP, Morasso MI.
Am J Med Genet A. 2019 Mar;179(3):442-447.

– Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn AC, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont ML, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé H.
Br J Dermatol. 2019 Jun;180(6):1438-1448.

– Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trial.
Leducq S, Caille A, Barbarot S, Bénéton N, Bessis D, Boccara O, Bursztejn AC, Chiaverini C, Dompmartin A, Droitcourt C, Gissot V, Goga D, Guibaud L, Herbreteau D, Le Touze A, Léauté-Labrèze C, Lorette G, Mallet S, Martin L, Mazereeuw-Hautier J, Phan A, Plantin P, Quéré I, Vabres P, Bourgoin H, Giraudeau B, Maruani A; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique.
Trials. 2019 Dec 17;20(1):739.

– Efficacy and Tolerance of Sirolimus (Rapamycin) for Extracranial Arteriovenous Malformations in Children and Adults.
Gabeff R, Boccara O, Soupre V, Lorette G, Bodemer C, Herbreteau D, Tavernier E, Maruani A.
Acta Derm Venereol. 2019 Nov 1;99(12):1105-1109.

– Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C,Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G.
Nature. 2019 Apr; 568(7752)

– Local Inhibition of MEK/Akt Prevents Cellular Growth in Human Congenital Melanocytic Nevi.
Rouillé T, Aractingi S, Kadlub N, Fraitag S, How-Kit A, Daunay A, Hivelin M, Moguelet P, Picard A, Fontaine RH, Guégan S.
J Invest Dermatol. 2019 Sep;139(9):2004-2015.

– Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency.
Bourhis T, Buche S, Fraitag S, Fayoux P.
Eur Ann Otorhinolaryngol Head Neck Dis. 2019 Jun;136(3):203-205.

– The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification.
Bursztejn AC, Happle R, Charbit L, Küsel J, Leclerc-Mercier S, Hadj-Rabia S, Fraitag S, Zimmer A, Fischer J
.J Eur Acad Dermatol Venereol. 2019 Jan;33(1):e1-e3.

– Nagashima-type palmoplantar keratoderma: A little-known palmoplantar keratoderma in Europe
Chassain K, Croué A, Blanchard E, Leclerc-Mercier S, Fischer J, Martin L.
Ann Dermatol Venereol. 2019 Feb;146(2):125-130

– Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.
Leclerc-Mercier S, Moshous D, Neven B, Mahlaoui N, Martin L, Pellier I, Blanche S, Picard C, Fischer A, Perot P, Eloit M, Fraitag S, Bodemer C.
J Eur Acad Dermatol Venereol. 2019 Jul;33(7):1412-1420.

– Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, HickmanG, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H,Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S,Fischer J.
Hum Mutat. 2019 Dec;40(12):2318-2333.

– Clinical variability and probable founder effect in oculocutaneous albinism type 7
Bataille P, Michaud V, Robert MP, Bekel L, Leclerc-Mercier S, Harroche A, Célérier C, Lasseaux E, Borgel D, Bremond-Gignac D, Bodemer C, Arveiler B, Hadj-Rabia S.
Clin Genet. 2019 Nov 6.

2018

– Skin manifestations among GATA2-deficient patients.
A Polat , M Dinulescu , S Fraitag , S Nimubona , F Toutain , S Jouneau, E Poullot, C Droitcourt , A Dupuy
Br J Dermatol . 2018 Mar;178(3):781-785.

– Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Smail Hadj-Rabia , Gaelle Brideau, Yasser Al-Sarraj , Rachid C Maroun , Marie-Lucile Figueres , Stéphanie Leclerc-Mercier , Eric Olinger , Stéphanie Baron , Catherine Chaussain , Dominique Nochy , Rowaida Z Taha , Bertrand Knebelmann, Vandana Joshi , Patrick A Curmi , Marios Kambouris , Rosa Vargas-Poussou, Christine Bodemer , Olivier Devuyst , Pascal Houillier , Hatem El-Shanti
Genet Med .2018 Feb;20(2):190-201.

– Self-healing juvenile cutaneous mucinosis: Clinical and histopathologic findings of 9 patients: The relevance of long-term follow-up.
Isabelle Luchsinger , Jérôme Coulombe , Franco Rongioletti , Marc Haspeslagh , Anne Dompmartin , Isabelle Melki , Rawane Dagher , Brigitte Bader-Meunier , Sylvie Fraitag , Christine Bodemer
J Am Acad Dermatol . 2018 Jun;78(6):1164-1170.

– Pediatric patients with cutaneous melanoma: A European study.
Ines B Brecht , Angela De Paoli , Gianni Bisogno , Daniel Orbach , Dominik T Schneider , Ulrike Leiter , Sonja Offenmueller , Giovanni Cecchetto , Jan Godzinski , Ewa Bien , Teresa Stachowicz-Stencel , Tal Ben-Ami , Stefano Chiaravalli , Andrea Maurichi , Gian Luca De Salvo , Silvia Sorbara , Christine Bodemer , Claus Garbe , Yves Reguerre , Andrea Ferrari
Pediatr Blood Cancer . 2018 Jun;65(6):e26974. doi: 10.1002/pbc.26974. Epub 2018 Jan 19.

– Topical pimecrolimus for paediatric cutaneous mastocytosis.
J Mashiah , A Harel , C Bodemer , S Hadj-Rabia , I Goldberg , E Sprecher , A Kutz
Clin Exp Dermatol . 2018 Jul;43(5):559-565. doi: 10.1111/ced.13391. Epub 2018 Feb 20.

– Sex- and age-adjusted prevalence estimates of five chronic inflammatory skin diseases in France: results of the « OBJECTIFS PEAU » study.
M-A Richard , F Corgibet , M Beylot-Barry , A Barbaud , C Bodemer , V Chaussade, M D’Incan, P Joly , M T Leccia , J M Meurant , A Petit , B Roy Geffroy , J F Sei , C Taieb , L Misery , K Ezzedine
J Eur Acad Dermatol Venereol . 2018 Nov;32(11):1967-1971. doi: 10.1111/jdv.14959. Epub 2018 Jul 16.

– Cutis laxa associated with monoclonal gammopathy: 14 new cases and review of the literature.
Marie Jachiet , Stéphanie Harel , Anne Saussine , Maxime Battistella , Michel Rybojad , Bouchra Asli , Djaouida Bengoufa , Thibault Mahevas , Didier Bessis , Lionel Galicier , Jean-Luc Schmutz , Smail Hadj-Rabia , David Boutboul , Céleste Lebbé , Martine Bagot , Marion Malphettes , Dan Lipsker , Jean-Paul Fermand , Jean-David Bouaziz , Bertrand Arnulf , Study Group of Systemic Diseases in Dermatology (Étude des Maladies Systémiques en Dermatologie); Groupe d’Etude des Dermatoses Associées à une Immunoglobuline Monoclonale
J Am Acad Dermatol. 2018 Nov;79(5):945-947. doi: 10.1016/j.jaad.2018.03.039. Epub 2018 Apr 3

– Reduction in pain following treatment with ranolazine in primary erythromelalgia: a case report.
C Greco , S Chaumon , M-L Viallard , C Bodemer
Br J Dermatol . 2018 Sep;179(3):783-784. doi: 10.1111/bjd.16654. Epub 2018 Jul 5.

– [Recurrent nevus: Case-report about a pagetoid form occurring from a congenital nevus in infancy].
L Bompy , J Levasseur , A Hallier , S Fraitag , M-H Aubriot-Lorton , B Bonniaud , N Zwetyenga
Ann Chir Plast Esthet . 2018 Jul;63(4):349-352. doi: 10.1016/j.anplas.2018.03.003. Epub 2018 Apr 4

– Epithelial barrier dysfunction in desmoglein-1 deficiency.
Laura Polivka , Smail Hadj-Rabia , Elodie Bal , Stéphanie Leclerc-Mercier , Marine Madrange , Yamina Hamel, Damien Bonnet , Stéphanie Mallet , Hubert Lepidi , Caroline Ovaert , Patrick Barbet , Christophe Dupont , Bénédicte Neven , Arnold Munnich , Lisa M Godsel , Florence Campeotto , Robert Weil , Emmanuel Laplantine , Sylvie Marchetto , Jean-Paul Borg , William I Weis , Jean-Laurent Casanova , Anne Puel , Kathleen J Green , Christine Bodemer , Asma Smahi
J Allergy Clin Immunol . 2018 Aug;142(2):702-706.e7.

– Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.
B P Fournier , M H Bruneau , S Toupenay , S Kerner , A Berdal , V Cormier-Daire , S Hadj-Rabia , A E Coudert , M de La Dure-Molla
J Dent Res. 2018 Nov;97(12):1306-1316. doi: 10.1177/0022034518777460.

– Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Quitterie Venot , Thomas Blanc , Smail Hadj Rabia , Laureline Berteloot , Sophia Ladraa , Jean-Paul Duong , Estelle Blanc , Simon C Johnson , Clément Hoguin , Olivia Boccara , Sabine Sarnacki , Nathalie Boddaert , Stephanie Pannier , Frank Martinez , Sato Magassa , Junna Yamaguchi , Bertrand Knebelmann , Pierre Merville , Nicolas Grenier , Dominique Joly , Valérie Cormier-Daire , Caroline Michot , Christine Bole-Feysot , Arnaud Picard , Véronique Soupre , Stanislas Lyonnet , Jeremy Sadoine 17 , Lotfi Slimani , Catherine Chaussain , Cécile Laroche-Raynaud , Laurent Guibaud , Christine Broissand , Jeanne Amiel , Christophe Legendre , Fabiola Terzi, Guillaume Canaud
Nature . 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13

– A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Vivien Béziat , Juan Li , Jian-Xin Lin , Cindy S Ma, Peng Li , Aziz Bousfiha , Isabelle Pellier , Samaneh Zoghi , Safa Baris , Sevgi Keles , Paul Gray , Ning Du , Yi Wang , Yoann Zerbib , Romain Lévy Thibaut Leclercq , Frédégonde About , Ai Ing Lim , Geetha Rao , Kathryn Payne , Simon J Pelham , Danielle T Avery , Elissa K Deenick , Bethany Pillay , Janet Chou , Romain Guery , Aziz Belkadi , Antoine Guérin Mélanie Migaud , Vimel Rattina , Fatima Ailal , Ibtihal Benhsaien , Matthieu Bouaziz , Tanwir Habib , Damien Chaussabel , Nico Marr , Jamel El-Benna , Bodo Grimbacher , Orli Wargon , Jacinta Bustamante , Bertrand Boisson , Ingrid Müller-Fleckenstein , Bernhard Fleckenstein , Marie-Olivia Chandesris , Matthias Titeux , Sylvie Fraitag , Marie-Alexandra Alyanakian , Marianne Leruez-Ville, Capucine Picard , Isabelle Meyts , James P Di Santo , Alain Hovnanian , Ayper Somer , Ahmet Ozen , Nima Rezaei , Talal A Chatila , Laurent Abel , Warren J Leonard , Stuart G Tangye , Anne Puel , Jean-Laurent Casanova
Sci Immunol . 2018 Jun 15;3(24):eaat4956. doi: 10.1126/sciimmunol.aat4956

– ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Aude Beyens , Ester Moreno-Artero , Christine Bodemer , Helen Cox , Alper Gezdirici , Elif Yilmaz Gulec , Najoua Kahloul , Philippe Khau Van Kien , Gonul Ogur , Annie Harroche , Marc Vasse , Aïcha Salhi , Sofie Symoens , Smail Hadj-Rabia , Bert Callewaert
Exp Dermatol . 2019 Oct;28(10):1142-1145. doi: 10.1111/exd.13723. Epub 2018 Aug 20.

– Congenital fibroblastic connective tissue nevi: Unusual and misleading presentations in three infantile cases.
Jebrane Bouaoud , Sylvie Fraitag , Veronique Soupre , Marc Mitrofanoff , Olivia Boccara , Christelle Galliot , Christine Bodemer , Arnaud Picard , Roman H Khonsari
Pediatr Dermatol . 2018 Sep;35(5):644-650. doi: 10.1111/pde.13571. Epub 2018 Jul 19

– Multiple capillary malformations of progressive onset: Capillary malformation-arteriovenous malformation syndrome (CM-AVM).
G Gourier , S Audebert-Bellanger , P Vourc’h , S Fraitag , K L’Hérondelle , A Labouche , L Misery , C Abasq-Thomas
Ann Dermatol Venereol. Aug-Sep 2018;145(8-9):486-491. doi: 10.1016/j.annder.2018.04.010. Epub 2018 Jul 26

– [FIMARAD: The French rare skin diseases network].
C Bodemer , C Taïeb , D Vidaud , S Ingen-Housz-Oro , R Gène
Ann Dermatol Venereol , Aug-Sep 2018;145(8-9):544-547. doi: 10.1016/j.annder.2018.05.008. Epub 2018 Jul 31

– New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Mathilde Pacault , Marie Vincent , Thomas Besnard , Caroline Kannengiesser , Claire Bénéteau , Sébastien Barbarot , Xénia Latypova , Khaldia Belabbas , Antonin Lamazière, Norbert Winer , Madeleine Joubert 8 , Stéphane Bézieau, Bertrand Isidor , Sandra Mercier , Mathilde Nizon , Stéphanie Leclerc-Mercier , Smail Hadj-Rabia , Fabienne Dufernez
Eur J Hum Genet . 2018 Dec;26(12):1784-1790. doi: 10.1038/s41431-018-0217-0. Epub 2018 Aug 22

– Verrucous hemangioma (also known as verrucous venous malformation): A vascular anomaly frequently misdiagnosed as a lymphatic malformation.
Olivia Boccara , Sonia Ariche-Maman , Smail Hadj-Rabia , Bertrand Chrétien-Marquet , Annonciade Frassati-Biaggi , Frédéric Zazurca , Francis Brunelle , Veronique Soupre , Christine Bodemer , Sylvie Fraitag
Pediatr Dermatol . 2018 Nov;35(6):e378-e381. doi: 10.1111/pde.13671. Epub 2018 Sep 14.

– Burden of albinism: development and validation of a burden assessment tool.
Fanny Morice-Picard , Charles Taïeb , Aurelie Marti , Antoine Gliksohn , Mohammed Bennani , Christine Bodemer , Khaled Ezzedine , Filière Maladies Rares en Dermatologie: FIMARAD
Orphanet J Rare Dis . 2018 Sep 18;13(1):162. doi: 10.1186/s13023-018-0894-3.

– Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Victoria E R Parker , Kim M Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal L Oden , Leena De Silva , Julie C Sapp , Katrina Andrews , Marc Bardou , Kong Y Chen , Thomas N Darling , Elodie Gautier , Barry R Goldspiel , Smail Hadj-Rabia , Julie Harris , Georgios Kounidas , Parag Kumar , Marjorie J Lindhurst , Romaric Loffroy , Ludovic Martin , Alice Phan , Kristina I Rother , Brigitte C Widemann , Pamela L Wolters , Christine Coubes , Lucile Pinson , Marjolaine Willems , Catherine Vincent-Delorme , PROMISE Working Group; Pierre Vabres , Robert K Semple , Leslie G Biesecker
Genet Med . 2019 May;21(5):1189-1198. doi: 10.1038/s41436-018-0297-9. Epub 2018 Oct 1.

– Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Tenzin Gayden , Fernando E Sepulveda , Dong-Anh Khuong-Quang , Jonathan Pratt , Elvis T Valera , Alexandrine Garrigue , Susan Kelso , Frank Sicheri , Leonie G Mikael , Nancy Hamel , Andrea Bajic , Rola Dali , Shriya Deshmukh , Dzana Dervovic , Daniel Schramek , Frédéric Guerin , Mikko Taipale , Hamid Nikbakht , Jacek Majewski , Despina Moshous , Janie Charlebois , Sharon Abish , Christine Bole-Feysot , Patrick Nitschke , Brigitte Bader-Meunier , David Mitchell , Catherine Thieblemont , Maxime Battistella , Simon Gravel , Van-Hung Nguyen , Rachel Conyers , Jean-Sebastien Diana , Chris McCormack , H Miles Prince , Marianne Besnard , Stephane Blanche , Paul G Ekert, Sylvie Fraitag , William D Foulkes , Alain Fischer , Bénédicte Neven , David Michonneau , Geneviève de Saint Basile , Nada Jabado
Nat Genet . 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29.

– Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
D Bessis , J Miquel , E Bourrat , C Chiaverini , F Morice-Picard , C Abadie , F Manna , C Baumann , M Best , P Blanchet , A-C Bursztejn , Y Capri , C Coubes , F Giuliano , S Guillaumont , S Hadj-Rabia , M-L Jacquemont , C Jeandel , D Lacombe , S Mallet , J Mazereeuw-Hautier , N Molinari , V Pallure , C Pernet 1 , N Philip , L Pinson , P Sarda , S Sigaudy , Y Vial , M Willems , D Geneviève , A Verloes , H Cavé
Br J Dermatol . 2019 Jun;180(6):1438-1448. doi: 10.1111/bjd.17404. Epub 2019 Jan 18

– Impact of a rare chronic genodermatosis on family daily life: the example of epidermolysis bullosa.
H Dufresne , S Hadj-Rabia , C Bodemer
Br J Dermatol . 2018 Nov;179(5):1177-1178. doi: 10.1111/bjd.16710. Epub 2018 Sep 5.

– Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield.
Z Alabdullatif , J Coulombe , J Steffann , C Bodemer , S Hadj-Rabia
Br J Dermatol . 2018 Apr;178(4):e261-e262. doi: 10.1111/bjd.16092. Epub 2018 Feb 6

– The effects of sirolimus on Kasabach-Merritt phenomenon coagulopathy.
O Boccara , E Puzenat , S Proust , T Leblanc , D Lasne , S Hadj-Rabia , C Bodemer
Br J Dermatol . 2018 Feb;178(2):e114-e116.

– Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE.
M Samimi , M Durieux-Verde , A Caille , J Mazereeuw-Hautier , O Boccara , L Martin , C Chiaverini , C Eschard , N Beneton , P Vabres , X Balguerie , P Plantin , D Bessis , S Barbarot , A Dadban , C Droitcourt , S Leducq , G Lorette , B Morel , A Maruani , Groupe de Recherche de la Société Française de Dermatologie Pédiatrique
Br J Dermatol . 2018 Feb;178(2):520-526. doi: 10.1111/bjd.16017.

– Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE.
Annabel Maruani , Marine Durieux-Verde, Juliette Mazereeuw-Hautier, Olivia Boccara, Ludovic Martin, Christine Chiaverini, Catherine Eschard, Nathalie Bénéton, Pierre Vabres, Xavier Balguerie, Patrice Plantin, Didier Bessis, Sébastien Barbarot, Ali Dadban, Catherine Droitcourt, Aline Berthelot, Gérard Lorette, Sophie Leducq, Mahtab Samimi, Christian Andres, Agnès Caille, Patrick Vourc’h, Groupe de Recherche de la Société Française de Dermatologie
Acta Derm Venereol . 2018 Feb 7;98(2):251-255

– Benign aggressive vascular anomalies in children
Olivia Boccara , Annabel Maruani , Christine Léauté-Labrèze
Bull Cancer . 2018 Jun;105(6):610-625. doi: 10.1016/j.bulcan.2018.01.016. Epub 2018 Mar 20.

2017

– Presentations and outcomes of juvenile dermatomyositis patients admitted to intensive care units.
Besançon A, Brochard K, Dupic L, Gitiaux C, Delville M, Krid S, Quartier P, Saire E, Salomon R, Talbotec C, Bodemer C, Bader-Meunier B.
Rheumatology (Oxford). 2017 Oct 1;56(10):1814-1816.

– Fibrous Arthropathy Associated With Morphea: A New Cause of Diffuse Acquired Joint Contractures.
Etienne Merlin , Sylvain Breton , Sylvie Fraitag , Jean-Louis Stéphan , Carine Wouters , Christine Bodemer , Brigitte Bader-Meunier
Pediatrics. 2017 Oct;140(4):e20161899.

– Plaque-Like Myofibroblastic Tumor: Report of 4 Cases
Moulonguet I, Biaggi A, Eschard C, Durlach A, Stock N, Delanoé P, Coussirat-Voreaux MF, Fraitag S.
Am J Dermatopathol. 2017 Oct;39(10):767-772.

– Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Elodie Bal , Hyun-Sook Park , Zakia Belaid-Choucair , Hülya Kayserili , Magali Naville , Marine Madrange , Elena Chiticariu , Smail Hadj-Rabia , Nicolas Cagnard , Francois Kuonen , Daniel Bachmann , Marcel Huber , Cindy Le Gall , Francine Côté , Sylvain Hanein , Rasim Özgür Rosti , Ayca Dilruba Aslanger , Quinten Waisfisz , Christine Bodemer , Olivier Hermine , Fanny Morice-Picard , Bruno Labeille , Frédéric Caux , Juliette Mazereeuw-Hautier , Nicole Philip , Nicolas Levy , Alain Taieb , Marie-Françoise Avril , Denis J Headon , Gabor Gyapay , Thierry Magnaldo , Sylvie Fraitag , Hugues Roest Crollius , Pierre Vabres 28 , Daniel Hohl , Arnold Munnich , Asma Smahi
Nat Med . 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4

– Hepatitis E virus-induced primary cutaneous CD30(+) T cell lymphoproliferative disorder
Vincent Mallet , Julie Bruneau , Julien Zuber , Cécile Alanio , Stéphanie Leclerc-Mercier , Anne-Marie Roque-Afonso , Anke R M Kraft , Lucile Couronné , Dominique Roulot , Heiner Wedemeyer , Matthew L Albert , Patrick Hillon , Liliane Laroche , Stanislas Pol , Olivier Hermine
J Hepatol . 2017 Dec;67(6):1334-1339. doi: 10.1016/j.jhep.2017.08.011. Epub 2017 Aug 30.

– Extensive connective tissue nevus in children
O Lafargue , S Fraitag , O Boccara , F Comoz , J Rod , C Turgis Mezerette , A Dompmartin
Ann Dermatol Venereol . 2017 Nov;144(11):700-704. doi: 10.1016/j.annder.2017.06.006. Epub 2017 Jul 29

– Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.
Nicolas Garcelon , Antoine Neuraz , Vincent Benoit , Rémi Salomon , Sven Kracker , Felipe Suarez , Nadia Bahi-Buisson , Smail Hadj-Rabia , Alain Fischer , Arnold Munnich 1, Anita Burgun
J Biomed Inform . 2017 Sep;73:51-61. doi: 10.1016/j.jbi.2017.07.016. Epub 2017 Jul 25.

– Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.
Volodia Dangouloff-Ros , Smail Hadj-Rabia , Judite Oliveira Santos , Elodie Bal , Isabelle Desguerre , Manoelle Kossorotoff , Isabelle An , Asma Smahi , Christine Bodemer , Arnold Munnich , Julie Steffann , Nathalie Boddaert
Mol Genet Metab ,2017 Nov;122(3):140-144. doi: 10.1016/j.ymgme.2017.07.001. Epub 2017 Jul 10Automatic recognition of the XLHED phenotype from facial images.
Smail Hadj-Rabia , Holm Schneider , Elena Navarro , Ophir Klein , Neil Kirby , Kenneth Huttner , Lior Wolf , Melanie Orin , Sigrun Wohlfart , Christine Bodemer , Dorothy K Grange
Am J Med Genet A . 2017 Sep;173(9):2408-2414. doi: 10.1002/ajmg.a.38343. Epub 2017 Jul 10.

– Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex.
Brun J, Chiaverini C, Devos C, Leclerc-Mercier S, Mazereeuw J, Bourrat E, Maruani A, Mallet S, Abasq C, Phan A, Vabres P, Martin L, Bodemer C, Lagrange S, Lacour JP; Research Group of the French Society of Pediatric Dermatology.
Orphanet J Rare Dis. 2017 Jun 28;12(1):119. doi: 10.1186/s13023-017-0666-5.

– Primary lymphedema in childhood
Vignes S, Vidal F, Arrault M, Boccara O.
Arch Pediatr. 2017 Aug;24(8):766-776. doi: 10.1016/j.arcped.2017.05.002. Epub 2017 Jun 23.

– Congenital Infantile Fibrosarcoma Associated With a Lipofibromatosis-Like Component: One Train May Be Hiding Another
Romain Swiadkiewicz , Louise Galmiche, Kahina Belhous, Olivia Boccara, Sylvie Fraitag, Florence Pedeutour, Bérangère Dadone, Jacques Buis, Arnaud Picard, Daniel Orbach, Natacha Kadlub
Am J Dermatopathol . 2017 Jun;39(6):463-467.

– Chronic Pain in Patients with Skin Disorders
Misery L, Saint Aroman M, Zkik A, Briant A, Martin L, Sigal ML, Bodemer C, Guillet G, Bagot M, Taïeb C.
Acta Derm Venereol. 2017 Aug 31;97(8):986-988. doi: 10.2340/00015555-2694.

– Detection of interferon alpha protein reveals differential levels and cellular sources in disease.
Mathieu P Rodero , Jérémie Decalf , Vincent Bondet , David Hunt , Gillian I Rice , Scott Werneke, Sarah L McGlasson , Marie-Alexandra Alyanakian , Brigitte Bader-Meunier , Christine Barnerias , Nathalia Bellon , Alexandre Belot , Christine Bodemer , Tracy A Briggs , Isabelle Desguerre , Marie-Louise Frémond , Marie Hully , Arn M J M van den Maagdenberg , Isabelle Melki , Isabelle Meyts , Lucile Musset , Nadine Pelzer , Pierre Quartier , Gisela M Terwindt , Joanna Wardlaw , Stewart Wiseman , Frédéric Rieux-Laucat, Yoann Rose , Bénédicte Neven , Christina Hertel , Adrian Hayday , Matthew L Albert, Flore Rozenberg , Yanick J Crow, Darragh Duffy
J Exp Med . 2017 May 1;214(5):1547-1555. doi: 10.1084/jem.20161451. Epub 2017 Apr 18

– Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.
Clemence Lepelletier 1 , Yasser Al-Sarraj, Christine Bodemer, Hibbah Shaath, Sylvie Fraitag, Marios Kambouris, Dominique Hamel-Teillac, Hatem El Shanti, Smail Hadj-Rabia
Acta Derm Venereol . 2017 Jul 6;97(7):858-859. doi: 10.2340/00015555-2671.

– Burden of Infantile Hemangioma on Family: An International Observational Cross-Sectional Study
Christine Cazeau , Francine Blei , María Del Rosario Fátima Gonzáles Hermosa , Riccardo Cavalli , Olivia Boccara , Regina Fölster-Holst , Gilles Berdeaux , Alain Delarue , Jean-Jacques Voisard
Pediatr Dermatol . 2017 May;34(3):295-302. doi: 10.1111/pde.13133. Epub 2017 Apr 6

– Do the Side Effects of BRAF Inhibitors Mimic RASopathies?
Alicia Sfecci , Alain Dupuy , Monica Dinulescu , Catherine Droitcourt , Henri Adamski , Smail Hadj-Rabia , Sylvie Odent , Marie-Dominique Galibert , Lise Boussemart
J Invest Dermatol . 2017 Apr;137(4):805-809.

– Adjuvant treatment with the bacterial lysate (OM-85) improves management of atopic dermatitis: A randomized study.
Christine Bodemer , Gerard Guillet , Frederic Cambazard , Franck Boralevi , Stefania Ballarini , Christian Milliet , Paola Bertuccio , Carlo La Vecchia , Jean-François Bach , Yves de Prost
PLoS One . 2017 Mar 23;12(3):e0161555. doi: 10.1371/journal.pone.0161555. eCollection 2017

– Pharmacological modulators of autophagy activate a parallel noncanonical pathway driving unconventional LC3 lipidation.
Elise Jacquin , Stéphanie Leclerc-Mercier , Celine Judon , Emmanuelle Blanchard, Sylvie Fraitag , Oliver Florey
Autophagy . 2017 May 4;13(5):854-867. doi: 10.1080/15548627.2017.1287653. Epub 2017 Feb 15.

– Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
Elodie Bal , Emmanuel Laplantine , Yamina Hamel , Virginie Dubosclard , Bertrand Boisson , Alessandra Pescatore , Capucine Picard , Smaïl Hadj-Rabia , Ghislaine Royer , Julie Steffann , Jean-Paul Bonnefont , Valeria M Ursini , Pierre Vabres , Arnold Munnich , Jean-Laurent Casanova , Christine Bodemer , Robert Weil , Fabrice Agou , Asma Smahi
J Allergy Clin Immunol . 2017 Dec;140(6):1671-1682.e2. doi: 10.1016/j.jaci.2016.11.056. Epub 2017 Feb 27.

– Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz , Judith St-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac , Thibaud Jouan , Arthur Sorlin , Claire Abasq-Thomas , Juliette Albuisson , Jeanne Amiel , Daniel Amram , Stéphanie Arpin , Tania Attie-Bitach , Nadia Bahi-Buisson , Sébastien Barbarot , Geneviève Baujat , Didier Bessis , Olivia Boccara , Maryse Bonnière , Odile Boute , Anne-Claire Bursztejn , Christine Chiaverini , Valérie Cormier-Daire , Christine Coubes , Bruno Delobel , Patrick Edery , Salima El Chehadeh , Christine Francannet , David Geneviève , Alice Goldenberg , Damien Haye , Bertrand Isidor , Marie-Line Jacquemont 26 , Philippe Khau Van Kien , Didier Lacombe , Ludovic Martin , Jelena Martinovic , Annabel Maruani , Michèle Mathieu-Dramard , Juliette Mazereeuw-Hautier , Caroline Michot , Cyril Mignot , Juliette Miquel , Fanny Morice-Picard , Florence Petit , Alice Phan , Massimiliano Rossi , Renaud Touraine , Alain Verloes , Marie Vincent , Catherine Vincent-Delorme , Sandra Whalen , Marjolaine Willems , Nathalie Marle , Daphné Lehalle , Julien Thevenon , Christel Thauvin-Robinet , Smaïl Hadj-Rabia , Laurence Faivre , Pierre Vabres , Jean-Baptiste Rivière
Genet Med . 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2.

– Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.
C Tardieu , S Jung , K Niederreither, M Prasad , S Hadj-Rabia , N Philip, A Mallet , E Consolino , E Sfeir , B Noueiri, N Chassaing , H Dollfus , M C Manière , A Bloch-Zupan 2 3 4 , F Clauss
Clin Genet . 2017 Nov;92(5):477-486. doi: 10.1111/cge.12972. Epub 2017 Mar 19

– Arterial Spin-Labeling to Discriminate Pediatric Cervicofacial Soft-Tissue Vascular Anomalies.
G Boulouis , V Dangouloff-Ros , O Boccara , N Garabedian , V Soupre , A Picard , V Couloigner , N Boddaert , O Naggara , F Brunelle
AJNR Am J Neuroradiol . 2017 Mar;38(3):633-638. doi: 10.3174/ajnr.A5065. Epub 2017 Jan 19.

– Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
A D Zimmer , G-J Kim , A Hotz , E Bourrat , I Hausser , C Has , V Oji , K Stieler , A Vahlquist , V Kunde , B Weber , F P W Radner , S Leclerc-Mercier , N Schlipf , P Demmer , J Küsel , J Fischer
Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28.

– Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.
Isabelle Melki , Yoann Rose , Carolina Uggenti , Lien Van Eyck , Marie-Louise Frémond, Naoki Kitabayashi , Gillian I Rice , Emma M Jenkinson 5 , Anaïs Boulai , Nadia Jeremiah , Marco Gattorno , Stefano Volpi , Olivero Sacco , Suzanne W J Terheggen-Lagro, Harm A W M Tiddens , Isabelle Meyts , Marie-Anne Morren , Petra De Haes , Carine Wouters , Eric Legius 15 , Anniek Corveleyn , Frederic Rieux-Laucat, Christine Bodemer , Isabelle Callebaut , Mathieu P Rodero , Yanick J Crow
J Allergy Clin Immunol . 2017 Aug;140(2):543-552.e5.

– Assessment of the effectiveness of topical propranolol 4% gel for infantile hemangiomas.
Mashiah J, Kutz A, Rabia SH, Ilan EB, Goldberg I, Sprecher E, Harel A.
Int J Dermatol. 2017 Feb;56(2):148-153. doi: 10.1111/ijd.13517.

– Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome.
Colombe Paluel-Marmont , Nathalia Bellon , Patrick Barbet , Stéphanie Leclerc-Mercier , Smail Hadj-Rabia , Christophe Dupont , Christine Bodemer
J Allergy Clin Immunol . 2017 Jun;139(6):2003-2005.e1. doi: 10.1016/j.jaci.2016.10.045. Epub 2016 Dec 23

– Efficiency of an mTOR Inhibitor in Kasabach-Merritt Phenomenon with Indolent Tufted Angioma: A Case Report.
Charlée Nardin 1 , Olivia Boccara, Catherine Eschard, Michael Bayaram, Thibaud Dabudyk, François Aubin, Eve Puzenat
Acta Derm Venereol . 2017 Jul 6;97(7):851-852. doi: 10.2340/00015555-2597.

– Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.
Rice GI, Melki I, Frémond ML, Briggs TA, Rodero MP, Kitabayashi N, Oojageer A, Bader-Meunier B, Belot A, Bodemer C, Quartier P, Crow YJ.
J Clin Immunol. 2017 Feb;37(2):123-132. doi: 10.1007/s10875-016-0359-1. Epub 2016 Dec 9.

– [Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment].
C Chiaverini , E Bourrat , J Mazereeuw-Hautier , S Hadj-Rabia , C Bodemer , J-P Lacour
Ann Dermatol Venereol . 2017 Jan;144(1):6-35.

– Nail Psoriasis: A Systematic Evaluation in 313 Children with Psoriasis.
Diane Pourchot , Christine Bodemer , Alice Phan , Anne-Claire Bursztejn , Smaïl Hadj-Rabia , Franck Boralevi , Juliette Miquel , Thomas Hubich , Eve Puzenat , Anne-Laure Souillet , Ingrid Kupfer , Maryam Piram, Alain Beauchet , Emmanuel Mahé , Groupe de Recherche de la Société Française de Dermatologie Pédiatrique
Pediatr Dermatol . 2017 Jan;34(1):58-63.

– Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies.
Bénédicte Neven , Philippe Pérot , Julie Bruneau , Marlene Pasquet , Marie Ramirez, Jean-Sébastien Diana , Stéphanie Luzi , Nicole Corre-Catelin, Christophe Chardot , Despina Moshous, Stéphanie Leclerc Mercier , Nizar Mahlaoui , Nathalie Aladjidi , Brigitte Le Bail , Marc Lecuit , Christine Bodemer , Thierry Jo Molina , Stéphane Blanche , Marc Eloit
Clin Infect Dis , 2017 Jan 1;64(1):83-86.

– The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature.
Didier Bessis , Michèle Bigorre , Nausicaa Malissen , Guillaume Captier , Christine Chiaverini , Claire Abasq , Sébastien Barbarot , Olivia Boccara , Emmanuelle Bourrat , Hassan El Fertit , Catherine Eschard , Thomas Hubiche , Jean-Philippe Lacour , Nicolas Leboucq , Emmanuel Mahé , Stéphanie Mallet , Myriam Marque , Ludovic Martin , Juliette Mazereeuw-Hautier, Nathalie Milla , Alice Phan , Patrice Plantin , Marie-Christine Picot , Eve Puzenat , Valérie Rigau , Pierre Vabres , Sylvie Fraitag , Franck Boralevi , Groupe de Recherche Clinique en Dermatologie Pédiatrique
J Am Acad Dermatol . 2017 Mar;76(3):478-487.

– Subcutaneous Panniculitis-like T-cell Lymphoma: Immunosuppressive Drugs Induce Better Response than Polychemotherapy.
David Michonneau , Tony Petrella, Nicolas Ortonne, Saskia Ingen-Housz-Oro, Nathalie Franck, Stéphane Barete, Maxime Battistella, Marie Beylot-Barry, Béatrice Vergier, Marc Maynadié, Christine Bodemer, Olivier Hermine, Martine Bagot, Nicole Brousse, Sylvie Fraitag
Acta Derm Venereol . 2017 Mar 10;97(3):358-364. doi: 10.2340/00015555-2543

– Hydroxychloroquine-related skin discoloration.
Jérôme Coulombe , Olivia Boccara
CMAJ . 2017 Feb 6;189(5):E212.

Multidisciplinary consultation meetings (RCP)

Multidisciplinary consultation meetings (MCM) bring together health professionals from different disciplines to discuss patient cases in order to make a collegial decision on the best possible diagnostic and therapeutic care. Within this framework, the MAGEC reference center participates in the MCMs at the local, national and international level (within the framework of the ERN Skin).

At the national level, the MCMs are carried out using a highly secure tool that meets the regulatory requirements concerning personal health data. The MAGEC reference center participates in the MCM on genodermatosis, which is held every two months, as well as MCM on neurofibromatosis, angiomas, toxiderma and autoimmune bullous diseases.

For more information or to propose a case

Molecular diagnosis

The Magec reference center is linked to diagnostic laboratories for pre-natal, post-natal, pre-implantation diagnosis or high throughput sequencing.

Below are the lists of genes sequenced by pathology :

Hereditary bullous epidermolysis

COL17A1
COL7A1
DSG1
DSP
DST
EXPH5
FERMT1
ITGA3
ITGA6
ITGB4
JUP
KLHL24
KRT14
KRT5
LAMA3
LAMB3
LAMC2
PKP1
PLEC
TGM5

Ichtyoses, palmoplantar keratodermas

ABCA12
ABHD5
ADAM10
ADAM17
ALDH3A2
ALOX12B
ALOXE3
AP1S1
CARD14
CDSN
CERS3
CLDN1
CSTA
CTSC
CYP4F22
ELOVL4
FLG
GJA1
GJB2
GJB3
GJB4
GJB6
IL36RN
KRT1
KRT2
KRT10
KRT16
KRT17
KRT6A
KRT6B
KRT6C
KRT9
LIPN
LOR
MBTPS2
NIPAL4
PEX7
PHYH
PNPLA1
POMP
RHBDF2
SLC27A4
SERPINB7
SLURP1
SNAP29
SPINK5
ST14
STS
TGM1
TRPV3
VPS33B
AQP5
AAGAB
DSG4
HR/U2HR
SLC39A4
TAT
CHST8
EBP
SDR9C7
CASP14
SULT2B1
KDSR
KRT83
CAST

Ectodermal dysplasias

EDA
EDAR
EDARADD
GRHL2
IKBKG
PORCN
TP63
WNT10A
SMARCAD1
CDH1
NECTIN1 (PVRL1)
CDH3
KRT85
NECTIN4 (PVRL4)
KDF1 (C1orf172)
TSPEAR
KREMEN1

Darier, Hailey, Dowling_Degos diseases

ATP2A2
ATP2C1
KRT5
POGLUT1
POFUT1

Others

PDGFRB

> Download the consent for the genetic testing

National network map

French national reference center for rare diseases of the skin and mucous membranes of genetic origin (MAGEC)

COORDINATING SITE

Necker – Enfants malades hospital
Dermatology department
149 rue de Sèvres
75743 Paris cedex 15
Phone. : +33 (0)1 44 49 43 37

Head of department
Pr Christine Bodemer – Dermatology
Referring doctor of the site
Pr Smail Hadj-Rabia – Dermatology

CONSTITUTIVE SITES

Angers CHU
Dermatology department
4 rue Larrey
49933 Angers Cedex 9
Email: dermatologie@chu-angers.fr
Email: HeHumeau@chu-angers.fr
www.chu-angers.fr

Head of department and referring doctor of the site
Pr Ludovic Martin – Dermatology

Cochin hospital
Dermatology department – Pavillon Tarnier
89 rue d’Assas
75006 Paris
Phone. : +33 (0)1 58 41 18 06 – +33 (0)1 58 41 18 12 – + 33 (0)1 58 41 17 81
Fax : +33 (0)1 58 41 17 65
Email: maria.geay@aphp.fr
Email : marieodile.grison@aphp.fr

Head of department
Pr Selim Marcel Aractingi
Referring doctor of the site
Dr Sarah Guegan – Dermatology

Dijon Bourgogne CHU
Dermatology department
Bâtiment François Mitterrand – Hall A – 2nd floor
14 rue Paul Gaffarel
21000 Dijon
Phone. : +33 (0)3 80 29 33 36
Fax : +33 (0)3 80 29 30 28
Email : secret.dermato@chu-dijon.fr
Email : magec@chu-dijon.fr
www.chu-dijon.fr

Referring doctor
Pr Pierre Vabres – Dermatology

Tours CHRU
Adults – dermatology consultation (ground floor)
Trousseau hospital
avenue de la République
37170 Chambray-les-Tours
Consultations – Phone. : +33 (0)2 47 47 47 65
Fax : +33 (0)2 34 38 95 15
Children – dermatology consultation (ground floor)
Gatien de Clocheville pediatric hospital
49 boulevard Béranger
37000 Tours
Consultations – Phone. : +33 (0)2 47 47 47 06
www.dermatologie-tours.fr

Head of department
Pr Laurent Machet
Referring doctor of the site
Pr Annabel Maruani – Dermatology

Saint Louis hospital
Dermatology polyclinic
1 avenue Claude Vellefaux
75 475 PARIS Cedex 10
Appointment consultation
Mme Virginie Ferrand – Phone. : +33 (0)1 42 49 46 97
Email : consultation.dermatologie.sls@aphp.fr
Relative emergencies (working days and office hours)
Mme Rose Boudan – Phone. : +33 (0)1 42 49 45 41 ou +33 (0)6 35 42 00 52
Email : rose.boudan@aphp.fr
Mme Virginie Ferrand – Phone. : +33 (0)1 42 49 46 97
Email : virginie.ferrand@aphp.fr
Absolute emergencies including night and holidays
Myosostis dermatology medical intern – Phone. : +33 (0)1 42 49 97 32
Dermatology hospital care staff – Phone. : +33 (0)1 42 49 46 10
http://hopital-saintlouis.aphp.fr

Head of department
Pr Martine Bagot
Referring doctor of the site
Dr Emmanuelle Bourrat – Dermatology

Patient associations

Press review

2023

Therapeutic patient education
RFI | 07.19.2023
According to the WHO, therapeutic patient education (TPE) « aims to help patients acquire or maintain the skills they need to manage their lives as effectively as possible with a chronic disease ». Since 2009, this concept has been enshrined in law in France and is part of the care pathway for many diseases. It involves training provided by specific healthcare professionals, as well as other approved players, to the patients concerned.
> Listen to the podcast

2021

Rare skin disease: when treatment seems impossible
RTL | 11.13.21
PODCAST – In a moving new episode, Professor Christine Bodemer tells us the story of a little girl suffering from a rare syndrome with symptoms that we did not think could be relieved, until an unexpected scientific discovery.
> Read more

2020

Rare diseases: a new therapeutic approach to Olmsted syndrome
Pourquoi Docteur | 03.01.2020
French researchers have recently discovered a new therapeutic solution to treat patients with the rare and orphan disease Olmsted. They were able to cure them of their symptoms by prescribing a drug usually used to treat certain cancers.
> Read more

2018

Albinism: an emblematic example of the « double punishment » of rare dermatological diseases
Sciences et Avenirs | 03.07.2018
Both a rare disease, therefore little known and badly treated, and a dermatological disease, therefore visible, albinism is an example of a physical and psychological « double penalty ».
> Read more

Testimonial: living with a rare disease
FRANCEINFO | 02.28.2018
This Wednesday, February 28 is International Rare Disease Day. There are just over 7,000 identified and they affect 3 million French people. The France 2 cameras followed the daily life of a teenager who has to deal with a skin disease.
> Read more

Educational videos

Hereditary epidermolysis bullosa
Adapted rehabilitation

Hereditary epidermolysis bullosa
Hand care

Albinism and xeroderma pigmentosum
Photoprotection

Hereditary ichtyosis
Wraps

Epidermal necrolysis
Care

Palmoplantar keratoderma
Foot care

Bullous pemphigoid
Treat blisters

Create a file
MDPH-Life project

The medical certificate
MDPH-Medical certificate

Angioma, vitiligo, acne
Corrective make-up

Adults
MDPH-Adults

Hereditary epidermolysis bullosa

COL17A1
COL7A1
DSG1
DSP
DST
EXPH5
FERMT1
ITGA3
ITGA6
ITGB4
JUP
KLHL24
KRT14
KRT5
LAMA3
LAMB3
LAMC2
PKP1
PLEC
TGM5

Aesthetic handicap
The aesthetic handicap

Cutis laxa
Testimony of Cécile Boiteux

ERN Skin

Through a network of 58 Health Care Providers (HCPs) in 21 different European countries, ERN-Skin aims to pool the knowledge and expertise of its members to provide effective patient care.

These centers are coordinated by the Necker-Enfants malades hospital (Paris) dermatology department, with the support of the René Touraine foundation.

In order to improve the efficiency of the network, the centers belong to at least one of the 9 thematic groups of the ERN-Skin in which they can exchange on specific medical issues.

Each of the centers can then benefit from the work and medical devices of the others and pass on their expertise to the medical staff who deal directly with patients. In this way, the 58 centers contribute to the fight against misdiagnosis and provide appropriate answers and treatments for patients suffering from rare skin conditions in Europe.

For more information : https://ern-skin.eu/

Contact information

Necker-Enfants malades university hospital
> Dermatology Unit

149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet

In Necker, the MAGEC reference center in brief …

patients followed at least once a year*

medical consultations*

day hospitalizations*

patients in full hospitalization*

authorized therapeutic education programs*

patients trained in therapeutic education*

current research projects*

university courses*

publications*

teleconsultation procedures*

* data valid for 2022

French national reference center for rare diseases of the skin and mucous membranes of genetic origin (North MAGEC)

Medical team

Contact us

Acquired bullous lupus

Acute generalized exanthematous pustulosis (AGEP)

Albinism

Autoimmune Bullous Diseases (ABD)

Autoimmune pemphigus

Bazex-Dupré-Christol syndrome

Bullous pemphigoid

Café au lait spots

Cicatricial pemphigoid

CLOVES syndrome

Costello syndrome

Cowden syndrome

Cutaneous neuroendocrine (Merkel cell) carcinoma

Cutis Laxa (CL)

Darier disease

Dermatitis herpetiformis

Drug hypersensitivity syndrome

Drug-induced linear IgA dermatosis

Drug Reaction with eosinophilia and Systemic Symptoms (DRESS)

Dyskeratosis congenita

Dystrophic epidermolysis bullosa

Ectodermal dysplasia syndrome

Ehlers-Danlos syndrome

Epidermolysis bullosa acquisita

Epidermolysis bullosa simplex

Erythema multiforme major

Familial benign chronic pemphigus

Fixed erythema pigmentosum

Generalized bullous fixed erythema pigmentosum

Genodermatoses

Genodermatoses predisposing to cancer

Gorlin syndrome

Hereditary and acquired angioedema

Hereditary ichthyosis

Hereditary lymphoedema

Hyperpigmentation

Hypopigmentation

Hypotrichosis simplex

Incontinentia pigmenti

Ichthyosis follicularis-alopecia-photophobia syndrome

Inherited epidermolysis bullosa

Junctional epidermolysis bullosa

Large congenital melanocytic nevus

Lichen planus pemphigoides

Linear IgA dermatosis

Linear IgM dermatosis

Lyell syndrome / Stevens-Johnson syndrome (SJS)

Mucous membrane pemphigoid

Netherton syndrome

Neurofibromatosis type 1

Neurofibromatosis type 2

Olmsted syndrome

Pachyonychia congenita

Palmoplantar keratoderma (PPK)

Paraneoplastic pemphigus

Pemphigoid gestationis

Pemphigus vulgaris

Poikilodermas

Primary erythromelalgia

Pseudoxanthoma elasticum

Rothmund-Thomson syndrome

Superficial pemphigus

Toxic epidermal necrolysis

Toxidermias

Trichothiodystrophy (TTD)

Tuberous sclerosis complex

Vascular tumors and malformations

Vitiligo

Xeroderma pigmentosum

Physicians

Pain physician

Nurse

TPE pediatric nurse

Psychologist

Physiotherapists

Occupational therapist

Psychomotor therapist

Medical
team