Congenital Absence of Skin and Blistering in a Neonate

Abstract

REPORT OF A CASE A 2965-g, 41 week's gestation, African American girl was delivered by spontaneous normal vaginal delivery (Apgar score, 6/9) to a 21-year-old primiparous woman. She exhibited antimongolian slanting of the palpebral fissures, left lower eyelid colobomata, malar hypoplasia, bilateral aural atresia, malformed left auricle, high arched palate without evidence of clefting, scalp hair extending onto the cheeks bilaterally, and mandibular hypoplasia (Figure 1). There was bilaterally symmetrical congenitally absent skin over the pretibial areas extending from the knees to and including the dorsum of the feet (Figure 2). The infant failed auditory evoked potentials on the right ear and an absent left auricle precluded examination. The left foot displayed a talipes equinovarus deformity in addition to a calcaneal planovalgus right foot. All nails were present and normal. During the first week of life, blisters developed over the lower extremities, abdomen, arms, and face and re- curred until