title: Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity.
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.
authors.affiliation: Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine Seoul, Korea.
authors.forename: Se-Woong
authors.initials: SW
authors.lastname: Oh
authors.forename: Moon Young
authors.initials: MY
authors.lastname: Kim
authors.forename: Jeong Sun
authors.initials: JS
authors.lastname: Lee
authors.forename: Soo-Chan
authors.initials: SC
authors.lastname: Kim
mesh_terms: D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics*; D004814:Epidermal Cyst / Q000235:genetics*; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D009264:Nails, Malformed / Q000235:genetics*; D012625:Sebaceous Gland Diseases / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics*
chemical_list: D007633:Keratins