Department of Pathology, Shanghai 6th People's Hospital, Shanghai Jiaotong University, 600 Yishan Road, Shanghai 200233, PR China.
Pathol Res Pract. 2010 Jul 15;206(7):504-7. doi: 10.1016/j.prp.2009.12.011. Epub 2010 Feb 26.
Aplasia cutis congenita (ACC) belongs to a heterogeneous group of conditions characterized by a congenital absence of skin, usually on the vertex of the scalp. It can occur as an isolated defect or can be associated with a number of other congenital anomalies. Two cases of systemic ACC of a more severe and extensive type were recently reported. Here, we describe the third case of systemic ACC and review the available literature. A female infant was born with an extensive defect of the skin, a skull defect, imperforate hymen, and some other anomalies. She died soon after birth probably due to asphyxia and dehydration. We also compared the pathologic findings of the current case with those of the other two previously reported cases. This case suggests that systemic ACC might be recognized as a new syndrome. A limitation is that there is only 1 case, and it is difficult to gain a deeper understanding of its etiology and diagnostic criteria.
先天性皮肤发育不全（ACC）属于一组异质性疾病，其特征为先天性皮肤缺失，通常位于头顶头皮。它可以作为一个孤立的缺陷发生，也可以与许多其他先天性畸形相关。最近报道了两例更严重和广泛类型的全身性 ACC。在这里，我们描述了第三例全身性 ACC，并回顾了现有文献。一名女婴出生时患有广泛的皮肤缺损、颅骨缺损、处女膜闭锁和其他一些异常。她出生后不久就因窒息和脱水而死亡。我们还将当前病例的病理发现与前两例报告的病例进行了比较。该病例提示全身性 ACC 可能被认为是一种新的综合征。局限性在于仅有 1 例，难以更深入地了解其病因和诊断标准。
