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Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Salik, Deborah; Hadj-Rabia, Smail; Hohl, Daniel; Vahidnezhad, Hassan; Youssefian, Leila; Rakosi, Adèle; Dangoisse, Chantal; Marangoni, Martina; Vilain, Catheline; Smits, Guillaume.
Afiliação
  • Salik D; Department of Dermatology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium.
  • Hadj-Rabia S; Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Paris, France.
  • Hohl D; Institut Imagine, Université Descartes, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.
  • Vahidnezhad H; Department of Dermatology, University Hospital Center of Lausanne, Lausanne, Switzerland.
  • Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Rakosi A; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Dangoisse C; Department of Dermatology, University Hospital Center of Lausanne, Lausanne, Switzerland.
  • Marangoni M; Department of Dermatology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium.
  • Vilain C; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles (ULB), Brussels, Belgium.
  • Smits G; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Pediatr Dermatol ; 39(4): 590-593, 2022 Jul.
Article em En | MEDLINE | ID: mdl-35304779
ABSTRACT
Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is an extremely rare entity with only 19 patients described in the literature. We report an extended family with the disorder and investigate the association of neurodevelopmental symptoms. Patients with CLDN1 mutations, and specifically « the Moroccan¼ c.200_201delTT deletion, may be an increased risk for neurodevelopmental symptoms such as learning disabilities, mental retardation, and language delay.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colangite Esclerosante / Ictiose Lamelar / Ictiose / Transtornos Leucocíticos Tipo de estudo: Diagnostic_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colangite Esclerosante / Ictiose Lamelar / Ictiose / Transtornos Leucocíticos Tipo de estudo: Diagnostic_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article