Jl. Olivares et al., Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature, EUR J PED, 158(2), 1999, pp. 103-107
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.