Hidrotische ektodermale Dyspepsie mit Mutationen in Connexin 30

Zuletzt aktualisiert: 2022-11-16

Autor(en): Anzengruber F., Navarini A.

ICD11: -

Clouston – Syndrom

Transgrediente Hyperkatose, welche zu den ektodermalen Dysplasien gezählt wird.

Mutation im Gen GJB6, welches für Connexin 30 kodiert.

Transgrediente, palmoplantare Hyperkeratose.

Nagelveränderungen.

Alopezien.

Anamnese

Klinik

Genetische Untersuchung

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  2. Liu YT, Guo K, Li J, Liu Y, Zeng WH, Geng SM. Novel mutations in GJB6 and GJB2 in Clouston syndrome. Clin Exp Dermatol. 2015 Oct;40(7):770-3.
  3. Fujimoto A, Kurban M, Nakamura M, Farooq M, Fujikawa H, Kibbi AG, Ito M, Dahdah M, Matta M, Diab H, Shimomura Y. GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. J Dermatol Sci. 2013 Feb;69(2):159-66.
  4. van Steensel MA, Steijlen PM, Bladergroen RS, Hoefsloot EH, van Ravenswaaij-Arts CM, van Geel M. A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. J Invest Dermatol. 2004 Aug;123(2):291-3.