A Case of Epidermal Nevus Syndrome associated with Developmental Delay and Hypophosphatemic Rickets.
- Author:
You Jeong KIM
1
;
Young Yoo KIM
;
Won Bae LEE
Author Information
1. Department of Pediatrics, The Catholic University of Korea, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Epidermal nevus syndrome;
Hypophosphatemic rickets
- MeSH:
Abdominal Wall;
Central Nervous System;
Hernia;
Intellectual Disability;
Kidney;
Nevus*;
Paresis;
Parturition;
Pneumonia;
Rare Diseases;
Rickets, Hypophosphatemic*;
Skin
- From:Journal of the Korean Pediatric Society
1999;42(12):1741-1745
- CountryRepublic of Korea
- Language:Korean
-
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.
