Hidrotische ektodermale Dyspepsie mit Mutationen in Connexin 30

Zuletzt aktualisiert: 2022-11-16

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

ICD11: -

  • Palmoplantare Keratosen

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

  1. Yang R, Hu Z, Kong Q, Li W, Zhang L, Du X, Huang S, Xia X, Sang H. A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. J Eur Acad Dermatol Venereol. 2016 Aug;30(8):1362-5.
  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.