Fedda Faysal, Khattab Ruba, Ibrahim Amir, Hayek Shady, Khalifeh Ibrahim
American University of Beirut Medical Center, Lebanon.
Cutis. 2011 Dec;88(6):269-72.
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked hereditary disorder. Presentation varies from ichthyosiform nevus to complete limb amelia. We present a 17-year-old adolescent girl who presented with a 16-cm exophytic mass of the right foot that had been growing for 7 years as well as knee contracture. Deformed nails with onychorrhexis were noted bilaterally. History of multiple nonlinear erythematous skin lesions covered by dry waxy scales involving multiple body folds with sharp midline demarcation was obtained. The patient's family history was negative for consanguinity and similar conditions. Radiography showed right leg hypoplasia and osteopenia. These findings fulfill the diagnosis of CHILD syndrome. Microscopically, psoriasiform epidermal hyperplasia with marked orthohyper-keratosis and neutrophilic exocytosis were noted. The papillary dermis was packed with foamy macrophages consistent with xanthomatous changes, namely verruciform xanthoma. Verruciform xanthoma, although rarely found in other conditions, is a characteristic finding.
先天性半侧发育不良伴鱼鳞病样痣和肢体缺损（CHILD）综合征是一种罕见的X连锁遗传性疾病。其表现从鱼鳞病样痣到完全性肢体缺如不等。我们报告一名17岁少女，她右足有一个16厘米的外生性肿物，已生长7年，同时伴有膝关节挛缩。双侧可见指甲变形并伴有甲纵裂。患者有多处非线性红斑性皮肤损害病史，皮损覆盖有干燥蜡样鳞屑，累及多个身体褶皱，中线分界清晰。患者家族史无近亲结婚及类似疾病。X线检查显示右腿发育不全和骨质减少。这些表现符合CHILD综合征的诊断。显微镜下可见银屑病样表皮增生，伴有明显的正角化过度和中性粒细胞外渗。乳头真皮内充满泡沫状巨噬细胞，符合黄色瘤样改变，即疣状黄色瘤。疣状黄色瘤虽然在其他情况下很少见，但却是一个特征性表现。
