Aplasia Cutis Congenita, Cleft Palate, Epidermolysis Bullosa, and Ectrodactyly: A New Syndrome?

Abstract

Aplasia cutis congenita (ACC) is a skin disorder in which localized or widespread areas of skin are absent at birth. It has been associated with numerous anomalies and recognizable syndromes. We report a newborn infant with ACC of the scalp, multiple facial abnormalities including cleft palate but not cleft lip, hypoplasia of the distal phalanges of the hands, ectrodactyly of the feet, and epidermolysis bullosa of the extremities and lower trunk. Although this patient had some features that overlapped with ectrodactyly-ectodermal dysplasia-clefting syndrome, the absence of cleft lip and presence of additional skin abnormalities made that diagnosis unlikely. This could represent a newly recognized syndrome of numerous malformations in which ACC is associated with a constellation of previously undescribed structural anomalies.