J Korean Pediatr Soc.
1999 Dec;42(12):1741-1745.
A Case of Epidermal Nevus Syndrome associated with Developmental Delay and Hypophosphatemic Rickets
- Affiliations
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- 1Department of Pediatrics, The Catholic University of Korea, Seoul, Korea.
Abstract
- Epidermal nevus syndrome is a rare disease which includes disorders of bone, central nervous system, eye, kidney, vasculature, body symmetry, skin, and rarely, hypophosphatemic rickets which have been observed in association with epidermal nevi. We experienced a case of epidermal nevus syndrome. He presented with epidermal nevi and bilateral abdominal wall hernias at birth and developed right hemiparesis, mental retardation, and multiple fractures due to hypophosphatemic rickets. He died of pneumonia at the age of 6.
