Bittar Mario, Happle Rudolf
Department of Dermatology, Philipp University of Marburg, Deutschhausstrasse 9, 35037 Marburg, Germany.
J Am Acad Dermatol. 2004 Feb;50(2 Suppl):S34-7. doi: 10.1016/s0190-9622(03)01827-9.
The CHILD syndrome is an acronymic designation for congenital hemidysplasia with ichthyosiform nevus and limb defects. This X-linked dominant, male-lethal trait is caused by mutations in the gene NSDHL that is localized at Xq28 and involved in cholesterol metabolism. The CHILD nevus that constitutes a hallmark of this multisystem birth defect usually shows a striking lateralization pattern. Until now, a report of Zellweger and Uehlinger from 1948 was believed to represent the first published case of CHILD syndrome. However, we have now found an earlier report published in 1903 by Otto Sachs. An 8-year-old girl had a "xanthoma-like nevus" involving the right axillary region and a congenital muscular weakness of the right upper arm. Sachs described the clinical and histopathological features of CHILD nevus comprehensively, including the characteristic changes of verruciform xanthoma that can be taken within the group of epidermal nevi as a pathognomonic feature of CHILD nevus. This report is the earliest description of CHILD syndrome known so far. Moreover, Sachs presented in this article a comprehensive description of verruciform xanthoma, thus anticipating Shafer's "first report" of this histopathological phenomenon (1971) by almost 70 years.
CHILD综合征是先天性半侧发育不良伴鱼鳞病样痣和肢体缺陷的首字母缩写名称。这种X连锁显性、男性致死性性状是由位于Xq28且参与胆固醇代谢的NSDHL基因突变引起的。构成这种多系统出生缺陷标志的CHILD痣通常呈现出明显的偏侧化模式。直到现在，1948年泽尔韦格和厄林格的一篇报告被认为是首次发表的CHILD综合征病例。然而，我们现在发现了奥托·萨克斯于1903年发表的一份更早的报告。一名8岁女孩右侧腋窝区域有一个“黄瘤样痣”，且右上臂先天性肌无力。萨克斯全面描述了CHILD痣的临床和组织病理学特征，包括疣状黄瘤的特征性变化，在表皮痣组中，这种变化可作为CHILD痣的一个特征性病理特征。这份报告是迄今为止已知的对CHILD综合征的最早描述。此外，萨克斯在本文中对疣状黄瘤进行了全面描述，从而比沙弗对这种组织病理学现象的“首次报告”（1971年）早了近70年。
