Familial Aplasia Cutis Congenita of Bilateral Lower Limbs: A Rare Variant of Group 7

Abstract

Aplasia cutis congenita (ACC) is characterized by congenital absence of skin and has a wide clinical spectrum.While scalp involvement is most common, symmetrical limb involvement without epidermolysis bullosa (EB) or other associated anomalies is classified as Group 7 in Frieden's classification. 1 Familial cases of this phenotype are particularly rare.We report a term female neonate born to a 26-year-old gravida 2 mother by normal vaginal delivery.A previous neonate had died at 5 days of life with similar skin lesions (Figure 2) over both lower limbs, suggesting familial recurrence. 2 There was no history of consanguinity, teratogen exposure, or maternal infection.Antenatal ultrasonography showed oligohydramnios and mild right-sided pyelectasis.