Steatocystoma multiplex and oligosymptomatic pachyonychia congenita of the Jackson-Sertoli type.
A family with affected members, previously reported to carry an R94H mutation of keratin K17, and characterized by a variable and oligosymptomatic form of pachyonychia congenita of the Jackson-Sertoli type with steatocystoma multiplex, is described in detail.
Hohl
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Service de Dermatologie, CHUV-DHURDV, Lausanne, Switzerland. daniel.hohl@der.unil.ch
D000328:Adult; D004814:Epidermal Cyst / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009260:Nail Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology
D007633:Keratins