Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus

被引：0
|
作者：
Chou, YY
Chao, SC
Shiue, CN
Tsai, WH
Lin, SJ
机构：
[1] Natl Cheng Kung Univ Hosp, Dept Pediat, Tainan, Taiwan
[2] Natl Cheng Kung Univ Hosp, Dept Dermatol, Tainan, Taiwan
[3] Tzu Chi Dalin Gen Hosp, Dept Pediat, Chiayi, Taiwan
[4] Chi Mei Fdn Med Ctr, Dept Pediat, Tainan, Taiwan
来源：
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2005年 / 18卷 / 01期
关键词：
hypophosphatemic rickets; epidermal nevus syndrome; giant hairy nevus; PHEX gene;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：93 / 95
页数：3
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