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  • Title: Systemic aplasia cutis congenita: A case report and review of the literature.
    Author: Zhou J, Zheng L, Tao W.
    Journal: Pathol Res Pract; 2010 Jul 15; 206(7):504-7. PubMed ID: 20188489.
    Abstract:
    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.
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