Genetisch bedingte Hauterkrankungen – Xeroderma pigmentosum und das CEDNIK-Syndrom

Zusammenfassung

Die Rostocker Hautklinik ist Europäisches Referenznetzwerkzentrum für seltene Hauterkrankungen mit den besonderen Schwerpunkten Xeroderma pigmentosum und Ichthyosen. Diese Themen vertreten wir auch in der medizinischen Grundlagenforschung.

Xeroderma pigmentosum (XP) ist eine seltene, autosomal-rezessive Erkrankung, die entsprechend der Gendefekte in 7 Komplementationsgruppen – XP-A bis XP-G sowie die sog. XP-Variante (XP-V) – eingeteilt wird. XP ist ein Nukleotid-Exzisions-Reparatur-Defektsyndrom und äußert sich v. a. durch vorzeitige Hautalterung und frühzeitige Entwicklung von Hauttumoren.

Das seltene, neurokutane CEDNIK-Syndrom ist eine autosomal-rezessive Erkrankung, der eine Loss-of-Function-Mutation in SNAP29 zugrunde liegt. SNAP29 ist ein SNARE-Protein und an intrazellulären Membranfusionen beteiligt. CEDNIK ist ein Akronym für den mit dem Syndrom assoziierten Symptomkomplex aus zerebraler Dysgenese, Neuropathie, Ichthyose und Palmoplantarkeratosen. CEDNIK-Patienten weisen neben der Ichthyose zudem Gedeihstörungen, eine psychomotorische Retardierung und faziale Dysmorphien auf.

Abstract

The Clinic and Policlinic for Dermatology and Venerology Rostock is part of the European Reference Network for rare skin diseases. We specialize in xeroderma pigmentosum and ichthyoses. Those topics are also part of our basic research focusses.

Xeroderma pigmentosum (XP) is a rare, autosomal-recessive disease. The gene defects correspond with the seven complementation groups: XP-A to XP-G and the so-called XP variant (XP-V).

XP is a nucleotide excision repair defect syndrome that shows premature skin aging and an early onset of skin tumor development in childhood.

The rare neurocutaneous CEDNIK syndrome is an autosomal-recessive disease. The underlying mutation is a loss-of-function mutation in SNAP29 which encodes a SNARE protein implicated in intracellular membrane fusion. CEDNIK is an acronym for cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. CEDNIK patients show a failure to thrive, a psychomotor retardation and facial dysmorphia besides ichthyosis.

Publication History

Article published online:
20 August 2020

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