Publications by authors named "Christine Bodemer"

100Publications

Major response to imatinib and chemotherapy in a newborn patient prenatally diagnosed with generalized infantile myofibromatosis.

Pediatr Blood Cancer 2020 Sep 8:e28576. Epub 2020 Sep 8.

SIREDO Oncology Center (Care, Innovation and Research for Children, Adolescents and Young Adults with Cancer), Institut Curie, PSL University, Paris, France.

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http://dx.doi.org/10.1002/pbc.28576DOI Listing
September 2020

Early management of sight threatening retinopathy in incontinentia pigmenti.

Orphanet J Rare Dis 2020 08 27;15(1):223. Epub 2020 Aug 27.

Ophthalmology Department and Rare Eye Disease Reference Center OPHTARA, Necker-Enfants malades University Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1186/s13023-020-01509-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450972PMC
August 2020

The histopathology of congenital haemangioma and its clinical correlations: a long-term follow-up study of 55 cases.

Histopathology 2020 Aug 26;77(2):275-283. Epub 2020 Jul 26.

Paris Descartes University, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1111/his.14114DOI Listing
August 2020

Correction to: Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses.

Ital J Pediatr 2020 03 11;46(1):30. Epub 2020 Mar 11.

Department of Dermatology, Necker-Enfants Malades Hospital, Centre de Référence National pour les Maladies Génétiques à Expression Cutanée (MAGEC), APHP, Paris, France.

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http://dx.doi.org/10.1186/s13052-020-0791-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065451PMC
March 2020

Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome.

Pediatr Dermatol 2020 May 10;37(3):541-544. Epub 2020 Mar 10.

Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), APHP, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Université de Paris, Paris, France.

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http://dx.doi.org/10.1111/pde.14139DOI Listing
May 2020

An unsual case of palmoplantar keratoderma.

Pediatr Dermatol 2020 Jan;37(1):e17-e19

Department of Dermatology, Reference Centre for Genodermatoses and Rare Skin Disease (MAGEC), Hopital Universitaire Necker-Enfants Malades, APHP, Paris, France.

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http://dx.doi.org/10.1111/pde.14038DOI Listing
January 2020

Severe Abdominal Manifestations in Juvenile Dermatomyositis.

J Pediatr Gastroenterol Nutr 2020 02;70(2):247-251

Laboratoire d'Immunogénétique des maladies auto-immunes de l'enfant, Institut Imagine, INSERM U 1163.

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http://dx.doi.org/10.1097/MPG.0000000000002575DOI Listing
February 2020

Devastating Gynecological Infections in Women with STAT3 Deficiency.

Clin Infect Dis 2020 Oct;71(7):e186-e190

Paris University, Necker-Pasteur Center for Infectious Diseases and Tropical Medicine, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, University Hospital Institute (IHU)  Imagine, Paris, France.

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http://dx.doi.org/10.1093/cid/ciaa020DOI Listing
October 2020

Pityriasis Lichenoides: A Large Histopathological Case Series With a Focus on Adnexotropism.

Am J Dermatopathol 2020 Jan;42(1):1-10

Department of Dermatology, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1097/DAD.0000000000001448DOI Listing
January 2020

Incontinentia pigmenti burden scale: designing a family burden questionnaire.

Orphanet J Rare Dis 2019 11 26;14(1):271. Epub 2019 Nov 26.

French Rare Diseases Healthcare Network Department of Dermatology, Necker Enfants Malades Hospital Paris, APHP, Paris, France.

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http://dx.doi.org/10.1186/s13023-019-1234-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880510PMC
November 2019

Sensitive Skin in Children.

Acta Derm Venereol 2020 Jan 23;100(1):adv00039. Epub 2020 Jan 23.

Department of Dermatology and Venerology, University Hospital of Brest, FR-29200 Brest, France.

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http://dx.doi.org/10.2340/00015555-3376DOI Listing
January 2020

Clinical variability and probable founder effect in oculocutaneous albinism type 7.

Clin Genet 2020 03 6;97(3):527-528. Epub 2019 Nov 6.

Reference Centre for Genodermatoses and Rare Skin Disease (MAGEC) and Department of Dermatology, Filière Maladies Rares Dermatologiques (FIMARAD), ERN-Skin Hôpital Necker-Enfants Malades, Université de Paris-Centre, Paris, France.

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http://dx.doi.org/10.1111/cge.13655DOI Listing
March 2020

A focus on rare and undiagnosed skin diseases.

Exp Dermatol 2019 10;28(10):1103-1105

General coordination ERN-SKIN, Paris, France.

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http://dx.doi.org/10.1111/exd.14035DOI Listing
October 2019

P63-related disorders: Dermatological characteristics in 22 patients.

Exp Dermatol 2019 10;28(10):1190-1195

Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Paris, France.

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http://dx.doi.org/10.1111/exd.14045DOI Listing
October 2019

Mechanism of Oleogel-S10: A triterpene preparation for the treatment of epidermolysis bullosa.

Dermatol Ther 2019 07 2;32(4):e12983. Epub 2019 Jul 2.

Department of Dermatology, Institut Imagine, Necker Enfants Malades Hospital, Paris University, APHP 5; Centre for Genodermatoses (MAGEC); European Network for Rare Skin Diseases (ERN-SKIN), Paris, France.

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http://dx.doi.org/10.1111/dth.12983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771815PMC
July 2019

Craniofacial bone atrophy in Parry Romberg syndrome demonstrated using a Bayesian hierarchical model.

J Craniomaxillofac Surg 2019 Jun 8;47(6):909-914. Epub 2019 Apr 8.

Assistance Publique - Hôpitaux de Paris, Hôpital Necker - Enfants Malades, Service de chirurgie maxillo-faciale et plastique, Université Sorbonne Paris Cité, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1016/j.jcms.2019.03.032DOI Listing
June 2019

Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses.

Ital J Pediatr 2019 02 19;45(1):26. Epub 2019 Feb 19.

Department of Dermatology, Necker-Enfants Malades Hospital, Centre de Référence National pour les Maladies Génétiques à Expression Cutanée (MAGEC), APHP, Paris, France.

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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-019-0618-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381706PMC
February 2019

Treatments and outcomes in juvenile linear scleroderma: a narrative systematic review.

Eur J Dermatol 2018 Oct;28(5):718-720

Centre Hospitalier Régional Universitaire (CHRU) Tours, Department of Dermatology, 37044 Tours Cedex 9, France, Universities of Nantes and Tours, SPHERE-INSERM 1246, 37000 Tours, France.

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http://dx.doi.org/10.1684/ejd.2018.3392DOI Listing
October 2018

Verrucous hemangioma (also known as verrucous venous malformation): A vascular anomaly frequently misdiagnosed as a lymphatic malformation.

Pediatr Dermatol 2018 Nov 14;35(6):e378-e381. Epub 2018 Sep 14.

Department of Pathology, Institut Imagine, APHP, Hôpital Universitaire Necker-Enfants Malades, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1111/pde.13671DOI Listing
November 2018

A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti.

Pulm Circ 2018 Oct-Dec;8(4):2045894018793983. Epub 2018 Jul 23.

1 Department of Pediatric Cardiology, Necker Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1177/2045894018793983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131310PMC
July 2018

Congenital fibroblastic connective tissue nevi: Unusual and misleading presentations in three infantile cases.

Pediatr Dermatol 2018 Sep 19;35(5):644-650. Epub 2018 Jul 19.

Services de Chirurgie Maxillo-Faciale et Plastique, Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Necker Enfants-Malades, Université Sorbonne Paris Cité, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1111/pde.13571DOI Listing
September 2018

Epithelial barrier dysfunction in desmoglein-1 deficiency.

J Allergy Clin Immunol 2018 08 27;142(2):702-706.e7. Epub 2018 Apr 27.

Laboratory of Genetics of Monogenic Auto-inflammatory Diseases, Necker Branch, U1163, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078820PMC
August 2018

Self-healing juvenile cutaneous mucinosis: Clinical and histopathologic findings of 9 patients: The relevance of long-term follow-up.

J Am Acad Dermatol 2018 Jun 21;78(6):1164-1170. Epub 2017 Oct 21.

Department of Dermatology, Centre National de Référence des Maladies Génétiques à Expression Cutanée (MAGEC), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Unité INSERM U 1163, University Paris-Descartes; Institut Imagine, Sorbonne Cité University, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S01909622173257
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http://dx.doi.org/10.1016/j.jaad.2017.10.023DOI Listing
June 2018

Presentations and outcomes of juvenile dermatomyositis patients admitted to intensive care units.

Rheumatology (Oxford) 2017 Oct;56(10):1814-1816

Service d'Immunologie, Hématologie et Rhumatologie Pédiatrique, Centre de Référence National des Maladies Rhumatologiques et Inflammatoires Pédiatriques (CERHUMIP), Hôpital Necker - Enfants Malades, AP-HP Paris.

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http://dx.doi.org/10.1093/rheumatology/kex267DOI Listing
October 2017

Fibrous Arthropathy Associated With Morphea: A New Cause of Diffuse Acquired Joint Contractures.

Pediatrics 2017 Oct;140(4)

Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Necker Enfants Malades, Institut IMAGINE, Assistance Publique - Hopitaux de Paris, Paris, France

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http://dx.doi.org/10.1542/peds.2016-1899DOI Listing
October 2017

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.

Mol Genet Metab 2017 11 10;122(3):140-144. Epub 2017 Jul 10.

Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France; INSERM U1000, 149 rue de Sèvres, 75015 Paris, France; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.001DOI Listing
November 2017

Automatic recognition of the XLHED phenotype from facial images.

Am J Med Genet A 2017 Sep 10;173(9):2408-2414. Epub 2017 Jul 10.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.38343DOI Listing
September 2017

Chronic Pain in Patients with Skin Disorders.

Acta Derm Venereol 2017 Aug;97(8):986-988

Department of Dermatology, University Hospital Brest, FR-29200 Brest, France.

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http://dx.doi.org/10.2340/00015555-2694DOI Listing
August 2017

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

J Allergy Clin Immunol 2017 08 10;140(2):543-552.e5. Epub 2017 Jan 10.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.10.031DOI Listing
August 2017

Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome.

J Allergy Clin Immunol 2017 06 23;139(6):2003-2005.e1. Epub 2016 Dec 23.

Descartes-Sorbonne Paris Cité University, Paris, France; Department of Dermatology, Referral Center for Genodermatoses (MAGEC), Imagine Institute, Necker-Enfants Malades Hospital (AP-HP), Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.10.045DOI Listing
June 2017

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.

J Clin Immunol 2017 Feb 9;37(2):123-132. Epub 2016 Dec 9.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1007/s10875-016-0359-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325846PMC
February 2017

Acne Fulminans: Case Series and Review of the Literature.

Pediatr Dermatol 2016 Nov 4;33(6):e388-e392. Epub 2016 Oct 4.

Department of Dermatology, Necker Enfants-Malades Hospital, Paris, France.

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http://dx.doi.org/10.1111/pde.12983DOI Listing
November 2016

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.

J Allergy Clin Immunol 2016 12 20;138(6):1752-1755. Epub 2016 Aug 20.

Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmunity, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.07.015DOI Listing
December 2016

Proliferative Nodules vs Melanoma Arising in Giant Congenital Melanocytic Nevi During Childhood.

JAMA Dermatol 2016 10;152(10):1147-1151

Department of Dermatology, Cochin Hospital, Assistance Publique-Hôpitaux de Paris, Paris-Descartes-Sorbonne University, Paris, France7Department of Pathology, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1001/jamadermatol.2016.2667DOI Listing
October 2016

BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy.

J Clin Oncol 2016 09 5;34(25):3023-30. Epub 2016 Jul 5.

Sébastien Héritier, Mohamed-Aziz Barkaoui, Jean Miron, and Jean Donadieu, French Reference Center for Langerhans Cell Histiocytosis, Trousseau Hospital; Sébastien Héritier, Sabah Boudjemaa, Guy Leverger, and Jean Donadieu, Trousseau Hospital, Assistance Publique-Hôpitaux de Paris; Sylvie Fraitag, Despina Moshous, and Christine Bodemer, Necker Hospital, Assistance Publique-Hôpitaux de Paris; Michel Peuchmaur and Brigitte Lescoeur, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris; Michel Peuchmaur, Université Paris Diderot, Sorbonne Paris Cité; Hélène Pacquement, Institut Curie Medical Center; Guy Leverger, Université Pierre et Marie Curie; Fleur Cohen-Aubart and Julien Haroche, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris; Roger Lacave, Tenon Hospital, Assistance Publique-Hôpitaux de Paris; Valérie Taly, Institut National de la Santé et de la Recherche Médicale, Unités Mixte de Recherche S1147, Centre National de la Recherche Scientifique SNC 5014, Université Paris Sorbonne Cité, Paris; Sébastien Héritier, Jean-François Emile, Zofia Hélias-Rodzewicz, and Jean Donadieu, Université de Versailles Saint-Quentin-en-Yvelines, Université Paris-Saclay; Jean-François Emile, Ambroise Paré Hospital, Assistance Publique-Hôpitaux de Paris, Boulogne-Billancourt; Caroline Thomas and Anne Moreau, Centre Hospitalo-Universitaire de Nantes, Nantes; Florence Renaud, Centre Hospitalier Régional Universitaire, Université de Lille; Anne Lambilliotte and Françoise Mazingue, Centre Hospitalo-Universitaire de Lille, Lille; Catherine Chassagne-Clément, Centre Léon Bérard; Frédérique Dijoud, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon; Kamila Kebaili, Institut d'Hémato-Oncologie Pediatrique, Lyon; Valérie Rigau, Gui de Chauliac Hospital; Eric Jeziorski, Hôpital Arnaud de Villeneuve, Montpellier; Geneviève Plat, Centre Hospitalo-Universitaire de Toulouse, Toulouse; Nathalie Aladjidi, Centre Hospitalo-Universit

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http://ascopubs.org/doi/10.1200/JCO.2015.65.9508
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http://dx.doi.org/10.1200/JCO.2015.65.9508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321082PMC
September 2016

Exocrine pancreatic insufficiency in a child with Netherton syndrome.

Eur J Dermatol 2016 Jun;26(3):311-2

University François Rabelais Tours, 37000 Tours, CHRU Tours, Department of Dermatology, Unit of Paediatric Dermatology, 37044 Tours.

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http://dx.doi.org/10.1684/ejd.2016.2761DOI Listing
June 2016

Severe Skin Complications After Small Bowel Transplantation: Graft-Versus-Host Disease, DRESS, Virus, or Drug Toxicity?

Transplantation 2016 10;100(10):2222-5

1 Department of Paediatric Hepatogastroenterology-Nutrition, Assistance Publique, Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France. 2 Department of Dermatology, AP-HP, Necker-Enfants Malades Hospital, Paris Descartes University, Sorbonne Paris Cité, Paris, France. 3 Department of Pathology, AP-HP, Necker-Enfants Malades Hospital, Paris, France. 4 Department of Paediatric Immuno-Haematology and Microbiology Laboratory, AP-HP, Necker-Enfants Malades Hospital, Paris Descartes University, Sorbonne Paris Cité, Paris, France. 5 Department of Paediatric Surgery, AP-HP, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1097/TP.0000000000001131DOI Listing
October 2016

Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings.

Am J Dermatopathol 2016 Feb;38(2):83-91

*Dermatopathologist and Dermatologist, Department of Pathology, Hôpital Necker-Enfants Malades, APHP, Paris, France; Reference Center for Rare Cutaneous Diseases MAGEC, Hôpital Necker-Enfants Malades, APHP, Paris, France; Department of Dermatology, Hôpital Necker-Enfants Malades, APHP, Paris, France; †Head of the Department of Dermatology, Department of Pathology, Hôpital Necker-Enfants Malades, APHP, Paris, France; Reference Center for Rare Cutaneous Diseases MAGEC, Hôpital Necker-Enfants Malades, APHP, Paris, France; University Paris Descartes-Sorbonne Paris Cité, Paris, France; ‡Researcher, University Paris Descartes-Sorbonne Paris Cité, Paris, France; INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Imagine Institute, Paris, France; §Senior Consultant in Dermatology, Department of Pathology, Hôpital Necker-Enfants Malades, APHP, Paris, France; Reference Center for Rare Cutaneous Diseases MAGEC, Hôpital Necker-Enfants Malades, APHP, Paris, France; University Paris Descartes-Sorbonne Paris Cité, Paris, France; ¶Dermatologist, Department of Pathology, Hôpital Necker-Enfants Malades, APHP, Paris, France; Reference Center for Rare Cutaneous Diseases MAGEC, Hôpital Necker-Enfants Malades, APHP, Paris, France; ‖Head of the Department of Pediatric Dermatology, University Children's Hospital Zürich and University Hospital Zürich, Zürich, Switzerland; **Senior Dermatologist, Department of Dermatology, Hôpital Fournier, Nancy, France; ††Medical Doctor, Department of Dermatology, MAGEC, Hôpital Saint Louis, APHP, Paris, France; ‡‡Assistant Professor, Department of Pathology, Hôpital Henri Mondor, APHP, Paris, France; §§Head of the Department of Pathology, Hôpital Necker-Enfants Malades, APHP, Paris, France; University Paris Descartes-Sorbonne Paris Cité, Paris, France; ¶¶Professor of Genetics, University Paris Descartes-Sorbonne Paris Cité, Paris, France; Director of Genetic Skin Disease Laboratory, INSERM UMR 1163, Laboratory o

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http://dx.doi.org/10.1097/DAD.0000000000000425DOI Listing
February 2016

Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis.

Rheumatology (Oxford) 2016 Mar 30;55(3):470-9. Epub 2015 Sep 30.

Department of Pediatric Immunology-Hematology and Rheumatology, Paris-Descartes University, INSERM U 1163, Institut Imagine, AP-HP, Necker Hospital and.

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http://dx.doi.org/10.1093/rheumatology/kev359DOI Listing
March 2016

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.

J Med Genet 2016 05 23;53(5):289-95. Epub 2015 Sep 23.

Service de Dermatologie, Centre de référence MAGEC, INSERM1163, Institut Imagine Université Paris Descartes, Paris Sorbonne Cité, Faculté de Médecine et AP-HP Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103403DOI Listing
May 2016

Efficacy of colchicine in a child with relapsing bullous Henoch-Schönlein purpura.

Eur J Pediatr 2016 Jan 21;175(1):147-9. Epub 2015 Jul 21.

Department of General Pediatrics, Hôpital Necker-Enfants Malades, APHP, Paris Descartes University, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s00431-015-2594-5DOI Listing
January 2016

Methotrexate in Severe Childhood Alopecia Areata: Long-term Follow-up.

Acta Derm Venereol 2016 Jan;96(1):102-3

Service de Dermatologie, Centre de Référence des Maladies Rares de la Peau, Hôpital Larrey, 24 Chemin de Pouvourville, FR-31059 Toulouse, France.

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http://dx.doi.org/10.2340/00015555-2173DOI Listing
January 2016

Melanoma in xeroderma pigmentosum type C children: Overrepresentation of desmoplastic type?

J Am Acad Dermatol 2015 Jun;72(6):e173-6

Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Department of Dermatology, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2015.02.1124DOI Listing
June 2015

Malignant Melanoma Arising in Patients with a Large Congenital Melanocytic Naevus: Retrospective Study of 10 Cases with Cytogenetic Analysis.

Acta Derm Venereol 2015 Jul;95(6):686-90

Department of Pathology, Necker-Enfants Malades Hospital, APHP, Paris Descartes - Sorbonne Paris Cité university, Institut Imagine, 75015 Paris, France.

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http://dx.doi.org/10.2340/00015555-2049DOI Listing
July 2015

Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED).

Am J Med Genet A 2014 Oct 26;164A(10):2461-4. Epub 2014 Aug 26.

Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France; INSERM U781, Institut Imagine, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.36519
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http://dx.doi.org/10.1002/ajmg.a.36519DOI Listing
October 2014

Infantile myofibromatosis: a series of 28 cases.

J Am Acad Dermatol 2014 Aug 2;71(2):264-70. Epub 2014 Jun 2.

Department of Dermatology, Groupe Hospitalier Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris, Paris, France; Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Groupe Hospitalier Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris, Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2014.03.035DOI Listing
August 2014

A new lamin a mutation associated with acrogeria syndrome.

J Invest Dermatol 2014 Aug 1;134(8):2274-2277. Epub 2014 Apr 1.

Aix Marseille Université, GMGF, INSERM, UMR_S 910, Marseille, France. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.158DOI Listing
August 2014

Haemangioma family burden: creation of a specific questionnaire.

Acta Derm Venereol 2015 Jan;95(1):78-82

Department of Dermatology, Hopital Universitaire Necker-Enfants Malades, FR-75000 Paris, France.

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http://dx.doi.org/10.2340/00015555-1847DOI Listing
January 2015

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia.

JAMA Dermatol 2014 Mar;150(3):303-6

Institut National de la Santé et de la Recherche Médicale, U781, Paris, France2Université Paris Descartes-Sorbonne Paris Cité, Paris, France3Institut Imagine, Paris, France9Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpit.

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http://dx.doi.org/10.1001/jamadermatol.2013.8709DOI Listing
March 2014

Cutaneous location of atypical teratoid/rhabdoid tumour.

Acta Derm Venereol 2014 Jul;94(4):454-6

Department of Dermatology, Descartes-Paris V University, Necker-Enfants Malades Hospital, Paris, France.

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http://www.medicaljournals.se/acta/content/?doi=10.2340/0001
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http://dx.doi.org/10.2340/00015555-1716DOI Listing
July 2014

[Education on caring for children with inherited epidermolysis bullosa].

Soins Pediatr Pueric 2013 Sep-Oct(274):25-8

Service de dermatologie, Hôpital Necker-Enfants malades, 149 rue de Sèvres 75743 Paris cedex 15, France.

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December 2013

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013