Edward Syndrome with Aplasia Cutis Congenita: A Rare Case Report

Abstract

Aplasia cutis congenita (ACC) is a rare developmental malformation characterized by the absence of skin, extending to bone or dura in a localized or widespread area at birth. Mostly it’s seen in the scalp with an autosomal dominant inheritance and slight female predisposition. Generally, it is found as a solitary lesion without other anomalies, but sometimes it is reported associated with other syndromes. The association is much appreciated in case of malformations like Patau syndrome, Wolf-Hirschhorn Syndrome, JohansonBlizzard Syndrome etc. It is not commonly seen with Edward Syndrome. Normally Edward syndrome is a rare entity and its association with ACC makes it very rare. As the survival rate of Edward syndrome is very low, these types of associations are unavailable in the literature. We present this very rare association and which was never reported before in my country.

Keywords

• acc
• edward syndrome
• trisomy