Genetische Mosaikerkrankungen der Haut

Has, C. und Frommherz, L. (2021): Genetische Mosaikerkrankungen der Haut. In: Monatsschrift Kinderheilkunde, Bd. 169, Nr. 2: S. 105-113

Abstract

Genetic mosaic skin diseases are clinically and genetically diverse and heterogeneous. They can affect all structures of the skin and be accompanied by extracutaneous manifestations. The clinical diagnosis is based on the morphology, persistence and distribution of the skin lesions. Genetic testing is mandatory in syndromic disorders, in cases with potential inheritance of a dominant mutation and in situations of therapeutic relevance. The affected tissue must always be analyzed, preferentially by deep or ultra-deep next generation sequencing. Small mosaic skin lesions are harmless and usually represent esthetic problems. In contrast, syndromic mosaic disorders require a multidisciplinary management.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0026-9298
• Sprache: Deutsch