CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol
CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol
复制标题
DOI：
10.1111/jdv.14788
复制
发表时间：
2018-07
影响因子：
9.2
通讯作者：
X. Yu;J. Zhang;Y. Gu;D. Deng;Z. Wu;L. Bao;M. Li;Z. Yao
中科院分区：
文献类型：
--
作者：
X. Yu;J. Zhang;Y. Gu;D. Deng;Z. Wu;L. Bao;M. Li;Z. Yao
先天性偏侧发育不良伴鱼鳞病样红皮病和肢体缺陷（CHILD）综合征是一种罕见的X连锁显性遗传疾病，其特征是特殊的皮肤表现和同侧骨骼异常。CHILD综合征是由参与胆固醇合成的NSDHL基因突变引起的。
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X‐linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. CHILD syndrome is caused by mutations in NSDHL gene, which involves in cholesterol synthesis.