Olivares J L, Ramos F J, Carapeto F J, Bueno M
Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Spain.
Eur J Pediatr. 1999 Feb;158(2):103-7. doi: 10.1007/s004310051027.
The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.
表皮痣综合征（ENS）是一种罕见的皮肤病，由先天性表皮痣与中枢神经系统、骨骼、眼睛、耳朵或泌尿生殖系统异常相关联组成。我们报告一例与低磷性佝偻病相关的ENS新病例。该女孩出生时患有混合型表皮痣和骨骼异常。2.5岁时被诊断为低磷性佝偻病。14岁时，头部MRI显示右脑萎缩、左侧颞部蛛网膜囊肿和侧脑室不对称。我们查阅文献，发现13例ENS与低磷性佝偻病相关的报道病例。结论我们报告了另一例从出生到15岁随访的表皮痣综合征合并低磷性佝偻病患者，其具有结构上的中枢神经系统异常但智力功能正常。建议对表皮痣综合征患者进行全面的神经学检查。
