Bronspiegel N, Zelnick N, Rabinowitz H, Iancu T C
Am J Dis Child. 1985 May;139(5):509-13. doi: 10.1001/archpedi.1985.02140070083042.
Aplasia cutis congenita (ACC) is a rare skin defect usually localized to the vertex. It has been reported in association with other disorders involving mainly ectodermal and mesodermal structures. We discovered the association of ACC and intestinal lymphangiectasia (IL) in a patient and probably in his brother. At birth, the propositus had ACC of the vertex and edema, which persisted for six months. At 3 years of age he presented with generalized edema and was found to have hypoproteinemia and lymphopenia. Radioisotope studies and a small-intestinal biopsy confirmed the diagnosis of IL. On a fat-free, medium-chain triglyceride-containing diet, clinical and laboratory findings returned to normal. A sibling born one year after his brother's presentation had nonpitting limb edema and extensive ACC of the vertex with an underlying bony defect. He died in shock at 2 months of age, after sudden profuse bleeding from the sagittal sinus. The association between ACC and IL is another example of combined anomalies with both ectodermal and mesodermal involvement that is most probably not coincidental.
先天性皮肤发育不全（ACC）是一种罕见的皮肤缺陷，通常位于头顶。据报道，它与主要涉及外胚层和中胚层结构的其他疾病有关。我们在一名患者及其兄弟身上发现了ACC与肠道淋巴管扩张症（IL）的关联。出生时，先证者头顶有ACC并伴有水肿，持续了6个月。3岁时，他出现全身性水肿，发现有低蛋白血症和淋巴细胞减少。放射性同位素研究和小肠活检确诊为IL。采用无脂肪、含中链甘油三酯的饮食后，临床和实验室检查结果恢复正常。在他哥哥患病一年后出生的一个同胞兄弟有非凹陷性肢体水肿，头顶有广泛的ACC并伴有潜在的骨缺损。他在2个月大时因矢状窦突然大量出血死于休克。ACC与IL之间的关联是外胚层和中胚层均受累的联合异常的又一实例，很可能并非巧合。
