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TP63-assoziierte Erkrankungen

Zuletzt geändert von Thomas Brinkmeier am 2022/09/08 19:24

TP63-assoziierte Erkrankungen

Def: autosomal-dominant vererbte Syndrome mit breitem phänotypischem Spektrum einer ektodermalen Dysplasie. Hierzu zählen: Rapp-Hodgkin-, ADULT-, EEC3-, Limb-mammary-, SHFM4- und orofacial cleft 8-Syndrom

KL: - Hypohidrose, Nagel-Dysplasie, spärliches Haar, Zahnanomalien, ferner Lippen-Kiefer-Gaumenspalte, Split-Hand-Fuß-Fehlbildung/Syndaktylie, Blockierung der Tränenkanäle, Hyperpigmentierung und/oder Hypopigmentierung sowie hypoplastische Brüste und/oder Brustwarzen

- Ankyloblepharon filiforme adnatum

Vork: ausschließlich beim Rapp-Hodgkin-Syndrom

Lit: - Dermatol Online J. 2021 Nov 15;27(11). http://doi.org/10.5070/D3271156088

- J Dtsch Dermatol Ges. 2022 May 20. http://doi.org/10.1111/ddg.14770

  
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