Aplasia cutis congenita: Rare presentation in in-vitro conception with healthy surviving twin

Abstract

Aplasia cutis congenita (ACC) is a rare disorder which is characterized by the absence of a localized, or less commonly, a widespread area of skin involving the epidermis, dermis and subcutaneous tissue with an incidence of 3/10,000 newborns. Most commonly it manifests as an isolated defect of the scalp, but can also affect other parts like the trunk and limbs. The lesions range from superficial erosions to involving deeper structures like the underlying muscle, periosteum and bone. The dura mater may be affected in 20%-30% of cases. Many embryological malformations like abdominal wall defect, duodenal atresia and biliary atresia may also be associated with it. Majority of foetuses with extensive ACC, manifest with fetus papyraceus. Multiple mechanisms including genetic aberrations, like trisomy 13 and 4p deletion have also been proposed for it’s development. The larger defects have a stronger association with the autosomal dominant trait whereas the syndromic pattern show an X linked inheritance. Presently, treatment is largely conservative although skin grafting in cases of large defects involving the scalp is desirable.We report the case of a preterm male neonate with skin defects on the scalp and bilateral flanks. This was IVF (In-Vitro Fertilization) conceived pregnancy with triplets with one fetal reduction done at 15 weeks. The reported case is one of surviving DCDA (Di-chorionic Di-amniotic) twins.No one theory can be used to explain all the lesions of ACC, it is thought to be the phenotypic outcome of multiple disease processes. Fetal reduction is a reported risk factor for ACC.