Case 1: Newborn with Skin and Other Abnormalities

Presentation

A female infant is born precipitously via vaginal delivery after spontaneous rupture of membranes. The mother is a 24-year-old African American woman whose history includes 2 cesearean deliveries with no other medical concerns. The current pregnancy is complicated by limited prenatal care. The gestational age is unknown. The infant’s birthweight is 1,870 g, and her Ballard score is consistent with an estimated 32 weeks of gestation.

In the delivery room, the neonate has a spontaneous cry but with frothy oral secretions and a low heart rate requiring positive pressure ventilation, intubation, and brief cardiopulmonary resuscitation. Apgar scores are 5 and 7 at 1 and 5 minutes, respectively. Physical examination is significant for extensive blistering of her face, neck, chest, and extremities. She is placed in a plastic bag for skin protection, thermoregulation, and reduction of insensible water losses. The patient is then transferred to the NICU, where mechanical ventilation is ordered and umbilical line placement is attempted.

Admission examination reveals sloughing of oral mucosa as well as diffuse sloughing of perioral skin, right eyelid contraction, auricle skin denudation with hypoplastic and posteriorly rotated bilateral ears, and depressed nasal bridge (Fig 1). The extremities show congenital localized absence of skin (Fig 2), nail dystrophy, and muscle wasting (Fig 3). The skin is dressed with moisturizer and sterile dressing.