CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol

作者：Xia Yu, Jun Zhang, Yaoyao Gu, Dan Deng, Zhouwei Wu, L. Bao, Ming Li, Zhirong Yao · 发表于：Journal of the European Academy of Dermatology and Venereology · 年份：2018 · DOI：10.1111/jdv.14788 · 被引用次数：18 · 研究领域：Genetic and rare skin diseases.、Hedgehog Signaling Pathway Studies、Cancer and Skin Lesions

BACKGROUND: 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. OBJECTIVES: To verify the diagnosis of CHILD syndrome and seek effective pathogenesis-based therapy with little side-effects. METHOD: We comprehensively evaluated the patient's conditions. Pathological biopsy was performed in the lesion location. Genetic tests and real-time quantitative PCR were conducted to further confirm the diagnosis. The topical application of a mixed lotion containing 2% simvastatin and 2% cholesterol to lesion areas based on the pathogenesis as well as the literature review. RESULTS: We diagnosed a rare and typical case of CHILD syndrome co-occurring with multiple VX-like lesions. The gene mutation is a large deletion of exon 3 and 4 of the NSDHL gene, which was discovered and reported for the first time in CHILD syndrome. The skin lesions, including the verruciform plaques and VX-like lesions, improved obviously after treatment. CONCLUSIONS: Multiple exons deletions or microdeletion was not rare in CHILD syndrome. Classical Sanger sequencing may not be useful enough to find all kinds of mutations. Next-generation sequencing may be more effective. It is important to conduct genetic counselling to prevent more serious defects in descen...