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

The Journal of Dermatology
Se-Woong OhSoo-Chan Kim

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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Citations

Mar 19, 2008·Archives of Dermatological Research·Carol Oh AdibSancy Leachman
Apr 13, 2007·The Journal of Investigative Dermatology·Vishakha M Sharma, Sarah L Stein
Mar 29, 2014·Journal of Cutaneous Pathology·Angel Fernandez-FloresJosé Sánchez del Río
Mar 27, 2015·The Journal of Dermatology·Aldona PietrzakJean Kanitakis
Jan 1, 2010·Dermato-endocrinology·Sabine Fimmel, Christos C Zouboulis
Jan 10, 2020·Imaging Science in Dentistry·Nan-Young ShinSoon-Chul Choi
Jan 15, 2022·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·Carmen Maria SalavastruGeorge-Sorin Tiplica

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