Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature

The epidermal naevus syndrome (ENS) is a rare dermatological condition cons isting of congenital epidermal nevi associated with anomalies in the centra l nervous system, bones, eyes, hear or genito-urinary system. We report a n ew case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataem ic rickets was diagnosed at the age of 2.5 years. At 14 years of age, MRI o f the head demonstrated right brain hypotrophy, a left temporal arachnoid c yst and asymetric 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 h ypophosphataemic rickets, followed from birth to the age of 15 years, who h ad structural central nervous system anomalies with normal intellectual fun ctioning. A comprehensive neurological work up is recommended in patients w ith epidermal naevus syndrome.