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 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.
Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Spain. olivares@posta.unizar.es
J L
JL
Olivares
F J
FJ
Ramos
F J
FJ
Carapeto
M
M
Bueno
D000293:Adolescent; D001842:Bone and Bones / Q000000981:diagnostic imaging; D001921:Brain / Q000473:pathology; D002490:Central Nervous System / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D009506:Nevus / Q000175:diagnosis*; D011859:Radiography; D012878:Skin Neoplasms / Q000175:diagnosis*; D013577:Syndrome