Genodermatosen im Kindesalter

Zusammenfassung

Hereditäre Hauterkrankungen im Kindesalter sind sehr heterogen und variieren bezüglich des Zeitpunktes der erstmaligen Manifestation, der Klinik, des Krankheitsverlaufes, histologischer Merkmale und möglicher Therapieoptionen. Obwohl es sich um seltene Erkrankungen handelt, ist es von großer Bedeutung, auf der Basis der klinischen Symptome, biochemischer und enzymatischer Untersuchungen sowie der direkten DNA-Analyse zu einer verlässlichen Diagnose zu gelangen. Die enormen Fortschritte hinsichtlich des besseren Verständnisses der molekularen Grundlagen zahlreicher Genodermatosen haben es uns in den zurückliegenden Jahren ermöglicht, Verdachtsdiagnosen auf Genebene zu verifizieren und betroffenen Familien eine humangenetische Beratung anbieten zu können.

Summary

Genetic skin diseases in childhood are a heterogeneous group of diseases, which can vary in onset of manifestation, presentation, clinical course, histological characteristics, and therapeutic strategies. Although these disorders are rare, it is very important to make an accurate diagnosis on the basis of clinical signs, biochemical findings, enzyme essays, and DNA analysis. Over the last years, the enormous advances in understanding the molecular basis of several genodermatoses have enabled us to confirm putative diagnoses on the genetic level and to provide affected families with genetic counseling.

Schlüsselwörter

Genodermatosen - Molekulargenetik - DNA-Analyse - genetische Beratung

Keywords

Genodermatoses - molecular genetics - DNA analysis - genetic counseling

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