Genetische Mosaikerkrankungen der Haut

Genetic mosaic diseases of the skin

Zusammenfassung

Genetische Mosaikerkrankungen der Haut sind klinisch und genetisch vielgestaltig. Sie können alle Hautstrukturen betreffen und mit extrakutanen Manifestationen einhergehen. Aufgrund der Persistenz und der Verteilung der Hautveränderungen können sie klinisch diagnostiziert werden. Die molekulargenetische Untersuchung sollte insbesondere bei Syndromerkrankungen, bei möglicher Vererbung einer dominanten Mutation und bei therapeutischer Relevanz durchgeführt werden. Dabei muss immer betroffenes Gewebe untersucht werden. Die kleinflächigen, kutanen Mosaike stellen ästhetische Probleme dar und sind harmlos; die syndromalen Erkrankungen erfordern jedoch eine multidisziplinäre Behandlung.

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.

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Abbreviations

CGH:

„Comparative genomic hybridization“

CHILD:

„Congenital hemidysplasia with ichthyosiform erythroderma and limb defects“

CLOVE:

„Congenital lipomatous overgrowth“, vaskuläre Fehlbildung und epidermaler Nävus

DNS:

Desoxyribonukleinsäure

EN:

Epidermale Nävi

FISH:

Fluoreszenz-in-situ-Hybridisierung

KID:

„Keratitis, ichthyosis, deafness“

KMN:

Kongenitale melanozytäre Nävi

NCM:

Melanosis neurocutanea

NGS:

Next-Generation Sequencing

PTEN:

Phosphatase and Tensin homolog

SNP:

„Single-nucleotide polymorphism“

SOLAMEN:

Segmentaler Auswuchs („outgrowth“), Lipomatose, arteriovenöse Malformation, Epidermal-Nävus-Syndrom

ZNS:

Zentralnervensystem

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Correspondence to Prof. Dr. C. Has.

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P. Höger, Hamburg

F. Zepp, Mainz

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Has, C., Frommherz, L. Genetische Mosaikerkrankungen der Haut. Monatsschr Kinderheilkd (2021). https://doi.org/10.1007/s00112-020-01103-7

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Schlüsselwörter

  • Mosaizismus
  • Nävus
  • Mutation
  • Genteste
  • Syndrome

Keywords

  • Mosaicism
  • Nevus
  • Mutation
  • Genetic testing
  • Syndromes