Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

被引：5

作者：

Agarwala, Manoj ^{[1
]}

Salphale, Pankaj ^{[1
]}

Peter, Dincy ^{[1
]}

Wilson, Neil J. ^{[2
]}

Pulimood, Susanne ^{[1
]}

Schwartz, Mary E. ^{[3
]}

Smith, Frances J. D. ^{[2
]}

机构：

[1] Christian Med Coll & Hosp, Dept Dermatol, Vellore, Tamil Nadu, India

[2] Univ Dundee, Div Biol Chem & Drug Discovery Dermatol & Genet M, Sch Life Sci, Dundee, Scotland

[3] Pachyonychia Congenita Project, Salt Lake City, UT USA

来源：

INDIAN JOURNAL OF DERMATOLOGY | 2017年 / 62卷 / 04期

关键词：

Cysts; keratin; keratin mutation; nail dystrophy; pachyonychia congenita; palmoplantar keratoderma; plantar pain; GENETIC-ANALYSIS; DISEASES;

D O I：

10.4103/ijd.IJD_321_16

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals.

引用

页码：422 / 426

页数：5

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