Keratin 17 mutations in four families from India with pachyonychia congenita

• Main Authors: Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2017-01-01
• Series: Indian Journal of Dermatology
• Subjects: Cysts; keratin; keratin mutation; nail dystrophy; pachyonychia congenita; palmoplantar keratoderma; plantar pain
• Online Access: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2017;volume=62;issue=4;spage=422;epage=426;aulast=Agarwala

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.