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

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Bone and Bones / diagnostic imaging
  • Brain / pathology
  • Central Nervous System / abnormalities*
  • Female
  • Follow-Up Studies
  • Humans
  • Hypophosphatemia, Familial / diagnosis*
  • Magnetic Resonance Imaging
  • Nevus / diagnosis*
  • Radiography
  • Skin Neoplasms / diagnosis*
  • Syndrome