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저인산혈증성 구루병을 동반한 표피모반증후군 1례

A Case of Hypophosphatemic Rickets associated with Epidermal Nevus Syndrome

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참고문헌

주제분류소아과학

초록

표피모반증후군은 중추신경계, 안구, 골격계, 심장 또는 요로생식기의 기형을 동반하는 선천성 표피 모반을 특징으로 하는 질환으로 보행장애를 주소로 내원한 8세 여아에서 저인산혈증성 구루병을 동반한 표피모반증후군 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

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.

참고문헌 (12)

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  2. Kim YJ, "Lee WB. A case of epidermal nevus syndrome associated with developmental delay and hypophosphatemic Rickets. Korean J Pediatr 1999", pp.1741~5 (1999)
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  8. Chou YY,, "Lin SJ. Hypophosphataemic rickets associated with epidermal nevus syndrome and giant hairy nevus. J Ped Endo & Metablism 2005", 18, pp.93~5 (2005)
  9. Quales LD. FGF23, "and MEPE regulation of phosphate homeostasis and skeletal mineralization. Am J Physiol Endocrinol Metab 2003", 285, pp.1~9 (2003)
  10. Bowe AE, "FGF- 23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun", 284, pp.977~81 (2001)
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