Oh Se-Woong, Kim Moon Young, Lee Jeong Sun, Kim Soo-Chan
Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine Seoul, Korea.
J Dermatol. 2006 Mar;33(3):161-4. doi: 10.1111/j.1346-8138.2006.00037.x.
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.
先天性厚甲症2型（PC - 2）是一种常染色体显性疾病，其特征为肥厚性甲营养不良、局限性角皮病、多发性皮脂腺囊肿以及其他外胚层发育不良的特征。已证实PC - 2是由角蛋白17和角蛋白6b基因的突变引起的。在本报告中，我们描述了一名韩国患者角蛋白17基因中的错义突变M88T，该患者的表型包括早发性多发性皮脂腺囊肿和哈钦森样牙齿畸形，以及PC - 2的其他典型特征，如肥厚性指甲、 natal teeth和毛囊角化过度。
