Agarwala Manoj, Salphale Pankaj, Peter Dincy, Wilson Neil J, Pulimood Susanne, Schwartz Mary E, Smith Frances J D
Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.
School of Life Sciences, Division of Biological Chemistry and Drug Discovery, Dermatology and Genetic Medicine, University of Dundee, Dundee, UK.
Indian J Dermatol. 2017 Jul-Aug;62(4):422-426. doi: 10.4103/ijd.IJD_321_16.
Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, , , , , or . The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in were identified in all affected individuals.
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，由五个角蛋白基因（KRT6A、KRT6B、KRT6C、KRT16或KRT17）中任何一个发生突变引起。主要特征为掌跖角化病、足底疼痛和指甲营养不良。还可能出现各种类型的囊肿、毛囊角化过度、口腔黏膜白斑、多汗症和 natal teeth（此处natal teeth含义不明，可能是“ natal teeth”，即“诞生牙”，一种出生时就已萌出的牙齿）。四个无亲缘关系的印度家庭临床诊断为PC。基因检测证实了这一诊断；在所有受影响个体中均鉴定出KRT16突变。
