RESUMO
Aplasia cutis congenita, congenital absence of a localized area of skin, usually on the vertex of the scalp, occurs as an isolated defect, or with one or more other congenital anomalies as part of a syndrome, sequence or association. To date, more than 500 cases have been reported. A more severe and extensive form, almost complete absence of skin and subcutaneous tissue, was reported by Park et al. in 1998 [J Med Genet 35:609-611]. Until now, no other such lethal case has been reported. Here, we report the second case of systemic aplasia cutis congenita. The female was born without any skin at all, and with hypoplastic lungs, syndactyly, skull defect, esophageal atresia, intestinal malrotation, and calcifications of the hepatic capsule, as well as with other anomalies. She died about 12 hours after birth probably due to dehydration. On microscopic examination, the external surface of the body showed complete absence of the epidermis. Muscle fibers were thin. There was no evidence of skin appendages. The present case gives strong support to the suggestion that systemic aplasia cutis congenita is a newly recognized syndrome. More cases will have to be reported and studied in order to understand the etiology and establish diagnostic criteria. Thus, it is our conclusion that systemic aplasia cutis congenita might be a newly recognized syndrome.