Prasad Anupama Manohar, Inakanti Yugandar, Kumar Shiva
Department of DVL, P.E.S. Institute of Medical Sciences and Research, Kuppam, Andra Pradesh, India.
Indian J Dermatol. 2015 Sep-Oct;60(5):524. doi: 10.4103/0019-5154.159665.
Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth.
先天性厚甲症（PC）是一种罕见的常染色体显性遗传性皮肤病，其特征为影响指甲和掌跖部位的角化过度、口腔黏膜白斑及囊性损害。根据KRT6A/KRT16或KRT6B/KRT17基因中突变的定位情况，经典地将其分为两个主要亚型，即PC-1（雅-莱综合征）和PC-2（杰-劳综合征）。我们报告了一名9岁男性患者，自出生以来有指甲增厚、变色，全身出现棘状隆起性皮肤损害，伴有局限性掌跖角化病及先天性无牙病史。
