Kumar K V S Hari, Shaikh Altamash, Sharma Ruchita, Bisht Yashwant S
Department of Endocrinology, Command Hospital, Lucknow - 226002, UP, India.
J Pediatr Endocrinol Metab. 2012;25(3-4):327-9. doi: 10.1515/jpem-2011-0484.
Palmoplantar keratoderma (PPK) is a diverse group of disorders, characterized by thickening of the palms and soles, which are subdivided into focal or diffuse; it can be acquired or hereditary. Syndromic association of PPK is described in literature with all patterns of inheritance. Skin and nail changes, predisposition to malignancy, skeletal deformities, dwarfism and enamel abnormalities are rarely associated with PPK. In this case report, we present monozygotic twin sisters with palmoplantar keratoderma and growth hormone deficiency. We speculate a common mutation leading to these two apparently unrelated entities.
掌跖角化病（PPK）是一组多样的疾病，其特征为手掌和脚底增厚，可分为局限性或弥漫性；可后天获得或遗传。文献中描述了PPK与各种遗传模式的综合征关联。皮肤和指甲变化、易患恶性肿瘤、骨骼畸形、侏儒症和牙釉质异常很少与PPK相关。在本病例报告中，我们介绍了一对患有掌跖角化病和生长激素缺乏症的同卵双胞胎姐妹。我们推测存在一种共同的突变导致了这两种明显不相关的病症。
