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Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson‐like tooth deformity
Author(s) -
OH SeWoong,
KIM Moon Young,
LEE Jeong Sun,
KIM SooChan
Publication year - 2006
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2006.00037.x
Subject(s) - palmoplantar keratoderma , missense mutation , medicine , dermatology , keratin , pathology , mutation , hyperkeratosis , biology , genetics , gene
Pachyonychia congenita type 2 (PC‐2) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, focal keratoderma, multiple pilosebaceous cysts, and other features of ectodermal dysplasia. It has been demonstrated that PC‐2 is caused by mutations in the keratin 17 and keratin 6b genes. In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean patient whose phenotype included early onset steatocystoma multiplex and Hutchinson‐like tooth deformities along with other typical features of PC‐2 such as hypertrophic nails, natal teeth and follicular hyperkeratosis.