Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus.
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.
Chou
Yen-Yin
YY
Departments of Pediatrics, National Cheng-Kung University Hospital, Tainan, Taiwan.
Chao
Sheau-Chiou
SC
Shiue
Chiou-Nan
CN
Tsai
Wen-Hui
WH
Lin
Shio-Jean
SJ
D000328:Adult; D002648:Child; D005260:Female; D006197:Hair; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000150:complications* / Q000473:pathology; D008297:Male; D009506:Nevus / Q000473:pathology*; D013577:Syndrome