Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, , , , , or . The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis...

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Bibliographic Details
Published in:Indian journal of dermatology 2017-07, Vol.62 (4), p.422-426
Main Authors: Agarwala, Manoj, Salphale, Pankaj, Peter, Dincy, Wilson, Neil J, Pulimood, Susanne, Schwartz, Mary E, Smith, Frances J D
Format: Article
Language:English
Subjects:
Case Report
Cysts
Deoxyribonucleic acid
Dermatology
Disease
DNA
Family
Fingers & toes
Genetic aspects
Genetic testing
Keratin
keratin mutation
Life sciences
Mutation
nail dystrophy
pachyonychia congenita
Pain
palmoplantar keratoderma
Patients
plantar pain
Puberty
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Description
Summary:Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, , , , , or . 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 were identified in all affected individuals.
ISSN:0019-5154
1998-3611
DOI:10.4103/ijd.IJD_321_16