Xu Xiu-Lian, Huang Li-Ming, Wang Qiang, Sun Jian-Fang
Institute of Dermatology, Chinese Academy of Medical Sciences, Nanjing, China.
Pediatr Dermatol. 2015 Jan-Feb;32(1):135-7. doi: 10.1111/pde.12198. Epub 2013 Oct 22.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disease characterized by peculiar cutaneous presentations and skeletal abnormalities. Verruciform xanthoma (VX)-like histologic changes occasionally occur in CHILD syndrome, but typical VX-like lesions coexisting with CHILD syndrome are rare. In this study we report a rare case of multiple, coexisting VXs on the vulva and left lower limb of an 11-year-old Chinese girl who also exhibited the typical clinical presentations and limb defects of CHILD syndrome. Histologic and immunohistochemical analyses showed that the lesions were typical VXs.
先天性半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连锁显性疾病，其特征为特殊的皮肤表现和骨骼异常。疣状黄瘤（VX）样组织学改变偶尔会出现在CHILD综合征中，但与CHILD综合征共存的典型VX样病变很少见。在本研究中，我们报告了一例罕见病例，一名11岁中国女孩的外阴和左下肢出现多个并存的VX，同时她还表现出CHILD综合征的典型临床表现和肢体缺陷。组织学和免疫组化分析显示这些病变为典型的VX。
