Aplasia Cutis Congenita (ACC) is a rare skin disorder seen in neonates. The disease is characterized by absence of certain skin layers. The most commonly affected region is the scalp. However, the trunk, arms, and/or legs may also be affected. The disease commonly presents as a solitary lesion, which may cover a large part of the site. The affected area is well-circumscribed, not inflamed, and covered with a thin, transparent membrane. The skin lesions are usually benign, but they may be associated with other underlying disorders. In severe cases, the scalp and the skull may be deficient, exposing the dura, whereas in other cases, the scalp, bone, and dura, all may be deficient, exposing the brain.
Genetic factors, teratogens, as well as compromised vasculature of the skin have been implicated in causing ACC. In many cases, the disease has been found to be caused due to the early rupture of amniotic membranes. Mild forms of the disease can be managed by gentle cleansing of affected areas along with the application of ointments to prevent drying out. More severe cases, like full thickness defects of the scalp may lead to mortality in 50% of the cases, as they may be prone to haemorrhages, infection, and sagittal sinus thrombosis. Surgical intervention is required in such cases.
Although there have been reports of familial occurrences of ACC, genetic etiology of disease is not fully understood. Both autosomal dominant and recessive modes of inheritance have been noticed in Aplasia Cutis. Studies have shown an association of the condition with BMS1 gene in a family with autosomal dominant form of ACC.