Epidermal Nevus Syndrome AND Hypophosphatemic rickets

Introduction: Epidermal Nevus Syndrome (ENS) is a rare sporadic, and congenitally dermatological condition with epidermal nevi associated and in the central nervous system, skeleton, eyes, as well as cardiovascular and genitourinary systems. Several genes such as FGFR3, PIK3CA and HRAS have been associated with different types of epidermal nevus. Investigations have estimated the frequency of ENS 1 to 3 in 1,000 in general population. Hypophosphatemic rickets is an uncommon finding in ENS and only 15 cases have been reported. The purpose of this study was to report a new case of ENS associated with hypophosphatemic rickets Our Case is a 13 years old boy with extensive brown-yellow, multiples plaques on the both side of the body. The lesions were present at birth and enlarged as the child grew. They had a serpiginous distribution and followed Blaschko lines. Progressive muscle weakness, limb deformities, and irregular and painful walking wrist and ankle widening were also observed. Laboratory investigations revealed phosphorus level of 2 mg/dL and an high alkaline phosphatase level.So this case highlights the importance of meticulous examination of children with epidermal nevi. For hypophosphatemic rickets initiated with calcitriol (0.75 μg/day), oral phosphorus and amiloride with hydrochlorothiazide. Follow-up did not show evaluations hypercalciuria or nephrocalcinosis.

کلیدواژه ها:

Epidermal Nevus Syndrome ، Hypophosphatemic rickets