Rare diseases of the skin and mucous membranes of genetic origin (MAGEC)

French national reference center for rare diseases of the skin and mucous membranes of genetic origin (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 Christine Bodemer 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, manager of the MAGEC multi-site center.

Magec Angers English
Magec Tours English
Saint Louis Magec English
Dijon Magec English
Cochin Magec English

Medical
team

Coordinatrice : Professeur Christine Bodemer

Coordinator
Pr Christine Bodemer
MD, PhD

Smail Hadj-Rabia Magec

Co-coordinator
Pr Smaïl Hadj-Rabia
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

In case of emergency

appel urgence MAGEC english

The week
– Secretariats:
+33 (0)1 44 49 43 37 or
+33 (0)1 44 49 46 68

The dermatology emergency department (CUDR) is open 24 hours a day every day in Necker, with on-call specialists (dermatologists and paediatricians)

En savoir +

Physicians

photo-identite-femme magec2

Head of the reference center
Pr Christine Bodemer
MD, PhD

 

Smail Hadj-Rabia Magec

Co-head of the reference center
Pr Smaïl Hadj Rabia
MD, PhD

Photo Nathalia Bellon Magec

Dr Nathalia Bellon
MD

Olivia Boccara Magec

Dr Olivia Boccara
MD

Anne Welfringer Morin Magec

Dr Anne Welfringer Morin
MD

Pauline Bataille Magec

Dr Pauline Bataille
MD

Photo Julie Bonigen MAGEC

Dr Julie Bonigen
MD

Laura Polivka Magec

Dr Laura Polivka
MD

Pain physician

Celine Greco Magec

Dr Céline Greco
MD, PhD

Nurses

photo-identite-femme magec2

Isabelle Corset

Sandrine Compain Magec

Sandrine Compain

Psychologist

Sarah Dimarcq Magec

Sarah Dimarcq

Physiotherapists

photo-identite-femme magec2

Manuela Ingremeau

Elodie Prieur Magec

Elodie Prieur

Occupational therapist

Elodie Deladrière MaMea

Elodie Deladrière-Passignat

Psychomotor therapist

Elodie Riback Magec

Elodie Riback

Research project manager

Wiam Bhia Magec

Wiam Bhia

Socio-educational project manager

Hélène Dufresne Magec

Hélène Dufresne

MAGEC project manager

photo-identite-femme magec2

Maryam Hammouche

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

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

BEB-13 : Double-blind, Randomised, Vehicle-controlled, Phase III, Efficacy and Safety Study with 24-month Open-label Follow-up of Oleogel-S10 in Patients with Inherited Epidermolysis Bullosa- ongoing 

MAYNE-PHARMA : A Phase 2 Randomized, Multi-center, Double-blind, Vehicle Controlled, 12-Week, Safety, Efficacy, and Systemic Exposure Study of Trifarotene Cream in Adults and Adolescents with Lamellar Ichthyosis  –ongoing 

OPERANDO : Development of in vitro functional tests using primary cells from patients with Monogenic Diseases –ongoing 

WINGS : A first in human, double-blind, randomized, intra-subject placebo-controlled, multiple dose study of QR-313 evaluating safety, proof of mechanism, preliminary efficacy and systemic exposure in subjects with Recessive Dystrophic Epidermolysis Bullosa (RDEB) due to mutation(s) in exon 73 of the COL7A1 gene –ongoing

Clinical research academic promotion

MABUL : Comparative study of the healing of chronic skin ulcerations of dystrophic recessive epidermolysis bullosa under conventional dressing versus amniotic membrane –ongoing

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 

Ankyloblepharon syndrome-Ectodermal dysplasia-Cleft lip and palate : Topical treatment of aplasia and skin erosions with PRIMA-1MET – ongoing 

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.

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.

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 10

Automatic 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 (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

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

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 and referring doctor of the site
Pr Christine Bodemer – Dermatology
Co-head
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

Albinism: an emblematic example of the « double punishment » of rare dermatological diseases
SCIENCES ET AVENIR | 7.3.2018

Testimonial: living with a rare disease
FRANCEINFO | 28.2.2018
The daily life of a teenage girl who faces a skin disease

VINICIUS TERRANOVA/CATERS/SIPA

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

Vidéo rééducation main magec

Hereditary epidermolysis bullosa
Adapted rehabilitation

Vidéo soin des mains magec

Hereditary epidermolysis bullosa
Hand care

Vidéo photoprotection magec

Albinism and xeroderma pigmentosum
Photoprotection

Vidéo enveloppements magec

Hereditary ichtyosis
Wraps

Vidéo prise en charge magec

Epidermal necrolysis
Care

Vidéo soin des pieds magec

Palmoplantar keratoderma
Foot care

Vidéo soigner les bulles magec

Bullous pemphigoid
Treat blisters

Vidéo MDPH magec

Create a file
MDPH-Life project

Vidéo certificat médical magec

The medical certificate
MDPH-Medical certificate

Vidéo maquillage correcteur Magec

Angioma, vitiligo, acne
Corrective make-up

Vidéo adulte magec

Adults
MDPH-Adults

Vidéo handicap estethique magec

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

Témoignage Cutis Laxa Magec

Cutis laxa
Testimony of Cécile Boiteux

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 …

0
patients followed at least once a year*
0
medical consultations*
0
day hospitalizations*
0
patients in full hospitalization*
0
authorized therapeutic education programs*
0
patients trained in therapeutic education*
0
current research projects*
0
university courses*
0
publications*

* data valid for 2019