Aggarwal Sameer, Sharma Nitya Nand, Singhania Dheeraj K, Dhoot Dipesh K
Department of Medicine, PGIMS, Rohtak, Haryana, India.
Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S188-90. doi: 10.4103/2230-8210.119567.
The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature and skin. Rarely, congenital nevomelanocytic nevus also known as hairy nevus has also been reported in association with hypophosphatemic rickets. Studies suggest that phosphaturia, caused by circulating factors, called "phosphatonins" may be secreted by an epidermal or hairy nevus. We report here, a rare case of hypophosphatemic rickets associated with a giant hairy nevus in a 10-year-old boy.
多系统病理状况与表皮痣的关联，即表皮痣综合征，包括骨骼、中枢神经系统、眼睛、肾脏、脉管系统及皮肤的病症。罕见情况下，先天性黑素细胞痣（亦称毛痣）也有与低磷性佝偻病相关的报道。研究表明，由循环因子“磷调节素”引起的磷尿症可能由表皮痣或毛痣分泌。我们在此报告一例10岁男孩患低磷性佝偻病并伴有巨大毛痣的罕见病例。
