Smail Hadj-Rabia

Smail Hadj-Rabia

UNVERIFIED PROFILE

Are you Smail Hadj-Rabia?   Register this Author

Register author
Smail Hadj-Rabia

Smail Hadj-Rabia

Publications by authors named "Smail Hadj-Rabia"

Are you Smail Hadj-Rabia?   Register this Author

82Publications

1982Reads

22Profile Views

Effectiveness of topical propranolol 4% gel in the treatment of pyogenic granuloma in children.

J Dermatol 2019 Mar 28;46(3):245-248. Epub 2018 Dec 28.

Pediatric Dermatology Unit, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.14740DOI Listing
March 2019

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.

View Article

Download full-text PDF

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

Epithelial barrier dysfunction in desmoglein-1 deficiency.

J Allergy Clin Immunol 2018 Aug 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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

J Biomed Inform 2017 09 25;73:51-61. Epub 2017 Jul 25.

INSERM, Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Département d'informatique médicale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France; Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbi.2017.07.016DOI Listing
September 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:

View Article

Download full-text PDF

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

Do the Side Effects of BRAF Inhibitors Mimic RASopathies?

J Invest Dermatol 2017 04;137(4):805-809

Department of Dermatology, Pontchaillou Hospital, CHU de Rennes, Rennes, France; Division of Medicine, Université de Rennes 1, Rennes, France; CNRS UMR6290, GEO team, IGDR, Rennes, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2016.12.012DOI Listing
April 2017

Assessment of the effectiveness of topical propranolol 4% gel for infantile hemangiomas.

Int J Dermatol 2017 Feb;56(2):148-153

Pediatric Dermatology Unit, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.13517DOI Listing
February 2017

Pemphigus and depression comorbidity: a case control study.

Eur J Dermatol 2015 Nov-Dec;25(6):602-5

Siaal Research Center for Family Medicine and Primary Care, Ben -Gurion University of the Negev, Beer-Sheva, Israel, Research and Health Planning Department, Clalit Health Services, Tel Aviv 6209804 Israel.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1684/ejd.2015.2649.p
Web Search
http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ej
Publisher Site
http://dx.doi.org/10.1684/ejd.2015.2649DOI Listing
November 2016

To Treat Molluscum Contagiosum or Not-Curettage: An Effective, Well-Accepted Treatment Modality.

Pediatr Dermatol 2016 Nov 7;33(6):640-645. Epub 2016 Sep 7.

Pediatric Dermatology Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.12968DOI Listing
November 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: report of a case and literature review.

J Craniomaxillofac Surg 2014 Sep 15;42(6):e346-51. Epub 2014 Jan 15.

Reference Center for Dental Manifestations of Rare Diseases, Faculty of Dentistry, University Hospital, Strasbourg, France; Faculty of Dentistry, University of Montreal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcms.2014.01.037DOI Listing
September 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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Congenital erosive and vesicular dermatosis: a new case and review of the literature.

Pediatr Dermatol 2012 Nov-Dec;29(6):756-8. Epub 2011 Dec 30.

Service de Dermatologie, Hôpital Necker-Enfants Malades, Université Paris V-Descartes, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-1470.2011.01663.xDOI Listing
September 2013

Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study.

Orphanet J Rare Dis 2013 Aug 1;8:113. Epub 2013 Aug 1.

Department of Dermatology, Reference center for genodermatoses and rare skin diseases (MAGEC), INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-1
Publisher Site
http://dx.doi.org/10.1186/1750-1172-8-113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751792PMC
August 2013

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.

Am J Med Genet A 2013 Jul 29;161A(7):1786-91. Epub 2013 May 29.

Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35984DOI Listing
July 2013

Tibial lymphoplasmacytic plaque: a new, illustrative case of a recently and poorly recognized benign lesion in children.

Dermatology 2012 16;225(1):27-30. Epub 2012 Aug 16.

Cabinet de dermatopathologie, 35, avenue Mathurin-Moreau, FR-75019 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000341519DOI Listing
March 2013

Family burden in inherited ichthyosis: creation of a specific questionnaire.

Orphanet J Rare Dis 2013 Feb 15;8:28. Epub 2013 Feb 15.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599730PMC
February 2013

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Orphanet J Rare Dis 2013 Feb 25;8:36. Epub 2013 Feb 25.

Service de Dermatologie - Centre de référence national des Maladies Génétiques à Expression Cutanée MAGEC, INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599008PMC
February 2013

Atypical presentation of neuropsychiatric lupus with acanthosis nigricans.

Pediatr Neurol 2012 Oct;47(4):291-4

Department of Dermatology, Necker-Enfants Malades Hospital, Assistance Publique-Hopitaux de Paris, Paris Descartes University, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2012.06.005DOI Listing
October 2012

Crouzon syndrome with acanthosis nigricans: a case-based update.

Childs Nerv Syst 2011 Mar 7;27(3):349-54. Epub 2010 Dec 7.

Unité de Chirurgie Craniofaciale, Neurochirurgie Pédiatrique Hôpital Necker Enfants Malades, Centre de Référence Maladies rares Dysostoses Craniofaciales, 149 rue de Sèvres, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-010-1347-zDOI Listing
March 2011

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations.

J Am Acad Dermatol 2011 Mar 20;64(3):508-15. Epub 2011 Jan 20.

Centre National de Référence des Maladies Génétiques à Expression Cutanée and the Department of Dermatology, Unité de Formation et de Recherche Necker-Enfants Malades Hospital, Université Paris V, Paris, France.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S019096221000131
Publisher Site
http://dx.doi.org/10.1016/j.jaad.2010.01.045DOI Listing
March 2011

NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1.

J Invest Dermatol 2010 Sep 29;130(9):2173-8. Epub 2010 Apr 29.

Universite Paris 12, LIC EA4393 (Laboratoire d'Investigation Clinique), Créteil, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2010.100DOI Listing
September 2010

Clinical spectrum of tufted angiomas in childhood: a report of 13 cases and a review of the literature.

Arch Dermatol 2010 Jul;146(7):758-63

Department of Dermatology, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, 149 Rue de Sevres, Paris CEDEX 15, France.

View Article

Download full-text PDF

Source
http://archderm.jamanetwork.com/article.aspx?doi=10.1001/arc
Publisher Site
http://dx.doi.org/10.1001/archdermatol.2010.135DOI Listing
July 2010

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

J Invest Dermatol 2010 Jun 7;130(6):1537-42. Epub 2010 Jan 7.

Laboratoire de Biochimie hormonale et génétique, Hôpital Bichat, APHP, Université Paris VII, 46 Rue Henri Huchard, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2009.409DOI Listing
June 2010

Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension.

Acta Derm Venereol 2010 May;90(3):279-82

Department of Dermatology, Necker Hospital, MAGEC Reference Centre, NSERM U-781, René Descartes Paris V University, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-0824DOI Listing
May 2010

Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies.

J Cutan Pathol 2009 Sep;36(9):966-71

Department of Pathology, National Reference Centre for Genodermatoses (Maladies Génétiques à Expression Cutanée MAGEC), Necker-Enfants Malades Hospital, AP-HP, Université Paris-Descartes, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1600-0560.2009.01206.xDOI Listing
September 2009

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.

Eur J Med Genet 2008 Jan-Feb;51(1):35-43. Epub 2007 Oct 4.

Laboratoire de Biochimie, Inserm U587, Centre de Référence des Surdités Génétiques, Hôpital Armand-Trousseau, AP-HP, 24 av du Dr A Netter, Paris 75012, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2007.09.005DOI Listing
June 2008

Human epidermal Langerhans cells express the tight junction protein claudin-1 and are present in human genetic claudin-1 deficiency (NISCH syndrome).

Exp Dermatol 2008 Jan;17(1):20-3

Division of Immunology and Allergy, Department of Internal Medicine, Geneva University Hospitals and Medical School, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1600-0625.2007.00624.xDOI Listing
January 2008

Skin markers of occult spinal dysraphism in children: a review of 54 cases.

Arch Dermatol 2004 Sep;140(9):1109-15

Department of Dermatology, Groupe Hospitalier Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archderm.140.9.1109DOI Listing
September 2004

The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.

Eur J Hum Genet 2003 Sep;11(9):700-4

INSERM EMI 9906-IFRMP, Faculty of Medicine and Pharmacy, 22 Boulevard Gambetta, 76183 Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201004DOI Listing
September 2003

Clinical study of 40 cases of incontinentia pigmenti.

Arch Dermatol 2003 Sep;139(9):1163-70

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archderm.139.9.1163DOI Listing
September 2003

Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism.

Arch Dermatol 2003 Feb;139(2):201-4

Service de Dermatologie, Hôpital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
February 2003

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.

Hum Mol Genet 2002 Oct;11(20):2371-5

Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM UR-393, Hôpital Necker, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/11.20.2371DOI Listing
October 2002

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

J Invest Dermatol 2002 Jul;119(1):70-6

Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1523-1747.2002.01809.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173186PMC
July 2002