Chiriac Anca, Rusu Cristina, Murgu Alina, Chiriac Anca E, Wilson Neil J, Smith Frances J D
Department of Dermatology, Nicolina Medical Center, Iasi, Romania.
University of Medicine and Pharmacy "Grigore T Popa" Iasi, Romania.
Maedica (Bucur). 2017 Jun;12(2):123-126.
Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/ or fingernails. Oral leukokeratosis, follicular hyperkeratosis, cysts of various types and natal teeth may also be present. We report the first case of genetically confirmed PC from Romania due to a mutation in KRT6A, p.Arg466Pro.
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，其患病率未知，不过据估计全球范围内PC患者有2000至10000例。国际先天性厚甲症研究注册中心（IPCRR）目前（截至2016年11月）已确认746名个体（来自403个家庭）患有经基因检测确诊的先天性厚甲症。五个角蛋白基因KRT6A、KRT6B、KRT6C、KRT16或KRT17中任何一个发生杂合突变，主要是错义突变，都会导致先天性厚甲症。主要临床症状包括掌跖角化病、足底疼痛以及部分或全部趾甲和/或指甲的不同程度营养不良。还可能出现口腔黏膜白斑、毛囊角化过度、各种类型的囊肿和 natal teeth（此处可能有误，推测可能是natal teeth指新生牙，中文表述为“ natal teeth”不太准确，可改为“ natal teeth”，中文“新生牙” ）。我们报告了罗马尼亚首例经基因确诊的先天性厚甲症病例，该病例由KRT6A基因p.Arg466Pro突变引起。
