Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity

Se Woong Oh, Moon Young Kim, Jeong Sun Lee, SooChan Kim

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)161-164
Number of pages4
JournalJournal of Dermatology
Volume33
Issue number3
DOIs
Publication statusPublished - 2006 Mar 1

Fingerprint

Steatocystoma Multiplex
Pachyonychia Congenita
Keratin-17
Congenital Syphilis
Nails
Mutation
Natal Teeth
Keratin-6
Ectodermal Dysplasia
Missense Mutation
Genes
Cysts
Phenotype

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

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abstract = "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.",
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Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity. / Oh, Se Woong; Kim, Moon Young; Lee, Jeong Sun; Kim, SooChan.

In: Journal of Dermatology, Vol. 33, No. 3, 01.03.2006, p. 161-164.

Research output: Contribution to journalArticle

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