High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.

Frommherz, L; Krause, A; Kopp, J; Hotz, A; Hübner, S; Reimer-Taschenbrecker, A; Casetti, F; Zirn, B; Fischer, J; Has, C

Frommherz, L; Krause, A; Kopp, J; Hotz, A; Hübner, S; Reimer-Taschenbrecker, A; Casetti, F; Zirn, B; Fischer, J; Has, C.

Afiliação

Frommherz L; Faculty of Medicine, Department of Dermatology, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
Krause A; Department of Dermatology and Allergy, University Hospital, LMU Munich, Munich, Germany.
Kopp J; Faculty of Medicine, Department of Dermatology, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
Hotz A; Institute of Human Genetics, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
Hübner S; Institute of Human Genetics, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
Reimer-Taschenbrecker A; Faculty of Medicine, Department of Dermatology, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
Casetti F; Faculty of Medicine, Department of Dermatology, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
Zirn B; Faculty of Medicine, Department of Dermatology, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
Fischer J; Genetikum® Stuttgart, Genetic Counselling and Diagnostics, Stuttgart, Germany.
Has C; Institute of Human Genetics, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.

J Eur Acad Dermatol Venereol ; 35(11): 2293-2299, 2021 Nov.

Article em En | MEDLINE | ID: mdl-34273205

Assuntos

Eritrodermia Ictiosiforme Congênita; Ictiose Lamelar; Ictiose; Transportadores de Cassetes de Ligação de ATP/genética; Criança; Estudos de Associação Genética; Humanos; Eritrodermia Ictiosiforme Congênita/genética; Ictiose/genética; Ictiose Lamelar/genética; Mutação; Fenótipo

Palavras-chave

ARCI; Hereditary skin disease; genodermatosis; genotype-phenotype correlation; ichthyosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Eritrodermia Ictiosiforme Congênita / Ictiose Lamelar / Ictiose Tipo de estudo: Observational_studies / Prognostic_studies Limite: Child / Humans Idioma: En Revista: J Eur Acad Dermatol Venereol Assunto da revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido

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