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.

Afiliación

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 en En | MEDLINE | ID: mdl-34273205

Asunto(s)

Eritrodermia Ictiosiforme Congénita; Ictiosis Lamelar; Ictiosis; Transportadoras de Casetes de Unión a ATP/genética; Niño; Estudios de Asociación Genética; Humanos; Eritrodermia Ictiosiforme Congénita/genética; Ictiosis/genética; Ictiosis Lamelar/genética; Mutación; Fenotipo

Palabras clave

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

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eritrodermia Ictiosiforme Congénita / Ictiosis Lamelar / Ictiosis Tipo de estudio: Observational_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2021 Tipo del documento: Article País de afiliación: Alemania

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