Steatocystoma multiplex and oligosymptomatic pachyonychia congenita of the Jackson-Sertoli type
Details
Serval ID
serval:BIB_97C1ACAF3FDE
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Steatocystoma multiplex and oligosymptomatic pachyonychia congenita of the Jackson-Sertoli type
Journal
Dermatology
ISSN
1018-8665 (Print)
Publication state
Published
Issued date
1997
Volume
195
Number
1
Pages
86-8
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Journal Article
Research Support, Non-U.S. Gov't
Abstract
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.
Keywords
Adult
Epidermal Cyst/*genetics/pathology
Female
Humans
Keratins/genetics
Keratoderma, Palmoplantar/genetics/pathology
Male
Middle Aged
Mutation/genetics
Nail Diseases/*congenital/genetics/pathology
Pedigree
Phenotype
Skin Diseases/*genetics/pathology
Pubmed
Web of science
Create date
25/01/2008 17:36
Last modification date
20/08/2019 15:59