A Case of Hypophosphatemic Rickets associated with Epidermal Nevus Syndrome

Lee, Yong Joo; Kang, Ju Hyung; Lee, Soo Jin; Park, Ho Jin; Shin, Choong Ho; Cheong, Hae Il

J Korean Soc Pediatr Nephrol > Volume 9(2); 2005 > Article

J Korean Soc Pediatr Nephrol 2005;9(2): 263-268.

저인산혈증성 구루병을 동반한 표피모반증후군 1례

이용주, 강주형, 이수진, 박호진, 신충호, 정해일

¹을지의과대학교 소아과학교실
²을지의과대학교 소아과학교실
³을지의과대학교 소아과학교실
⁴을지의과대학교 소아과학교실
⁵서울대학교 의과대학 소아과학교실
⁶서울대학교 의과대학 소아과학교실

A Case of Hypophosphatemic Rickets associated with Epidermal Nevus Syndrome

Yong Joo Lee, Ju Hyung Kang, Soo Jin Lee, Ho Jin Park, Choong Ho Shin, Hae Il Cheong

¹Department of Pediatrics, Eul-Ji University School of Medicine
²Department of Pediatrics, Eul-Ji University School of Medicine
³Department of Pediatrics, Eul-Ji University School of Medicine
⁴Department of Pediatrics, Eul-Ji University School of Medicine
⁵Department of Pediatrics, Seoul National University College of Medicine
⁶Department of Pediatrics, Seoul National University College of Medicine

ABSTRACT

Epidermal nevus syndrome is a rare disease consisting of epidermal nevus and multisystem pathologic conditions associated with anomalies in the central nervous system, bone, eye, heart, vasculature and genito-urinary system. Hypophosphatemic rickets has been rarely observed in association with this syndrome. We report a case of hypophosphatemic rickets associated with epidermal nevus syndrome with review of the literature.

Key words: Epidermal nevus syndrome | Hypophosphatemic rickets | Bone