Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus

Yen Yin Chou, Sheau Chiou Chao, Chiou Nan Shiue, Wen Hui Tsai, Shio Jean Lin

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


The association of hypophosphatemic rickets and epidermal nevus or giant hairy nevus is rare. We report two patients with hypophosphatemic rickets, one associated with epidermal nevus syndrome and the other with giant hairy nevus, and describe their clinical features and variable response to treatment. The abnormal nevus tissue may have contributed to the pathogenesis of hypophosphatemic rickets. We did not find a PHEX gene mutation in these two patients, and the mechanism for their rickets may be different from that in X-linked hypophosphatemic rickets.

Original languageEnglish
Pages (from-to)93-95
Number of pages3
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number1
Publication statusPublished - 2005 Jan

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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