Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Pachyonychia congenita type 2 (PC‐2; Jackson–Lawler syndrome) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, mild focal keratoderma, multiple pilosebaceous cysts and other features of ectodermal dysplasia. Keratin 17 (K17) is a differentiation‐specific keratin expres...
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Published in | British journal of dermatology (1951) Vol. 139; no. 3; pp. 475 - 480 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Oxford BSL
Blackwell Science Ltd
01.09.1998
Blackwell Oxford University Press |
Subjects | |
Online Access | Get full text |
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Summary: | Pachyonychia congenita type 2 (PC‐2; Jackson–Lawler syndrome) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, mild focal keratoderma, multiple pilosebaceous cysts and other features of ectodermal dysplasia. Keratin 17 (K17) is a differentiation‐specific keratin expressed in the nail bed, hair follicle, sebaceous gland and other epidermal appendages. Previously, we have demonstrated that PC‐2 is caused by mutations in K17 and that similar mutations in this gene can present as steatocystoma multiplex with little or no nail dystrophy. Here, we describe three unrelated kindreds carrying K17 mutations. Two of these families have identical missense mutations (R94C) in the 1A domain of K17. However, while affected members of one kindred have the classical features of PC‐2, affected persons in the other family have the steatocystoma multiplex phenotype. In a third family with PC‐2, mutation N92S was detected, bringing the total number of distinct mutations reported in K17 thus far to 11. These results demonstrate that K17 mutations commonly underlie both PC‐2 and steatocystoma multiplex and that the alternate phenotypes which arise from these genetic lesions in K17 are independent of the specific mutation involved. |
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Bibliography: | ark:/67375/WNG-39D6SXTW-L istex:780840E43DC5227D503E416FBAED02C2F7C9D3DA ArticleID:BJD2413 ObjectType-Case Study-3 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-2 |
ISSN: | 0007-0963 1365-2133 |
DOI: | 10.1046/j.1365-2133.1998.02413.x |