Multiple Mesoectodermal Defects in an Infant

REPORT OF A CASE The female infant described here was the product of a full-term, uncomplicated pregnancy and normal, spontaneous vaginal delivery. At birth, the child was noted to have erosions and hyperpigmentation of the extremities, colobomas of the right iris and retina, delayed development of the sucking reflex, an umbilical cord hernia, and malrotation of the large intestine. No skeletal abnormalities were observed, and the child was otherwise in good health. There was no family history of a similar disorder. At the age of 5 months, the infant was examined at the outpatient dermatology clinic and was noted to have reddish-brown retiform atrophic lesions concentrated on her extremities (Fig 1). The subcutaneous fat appeared to protrude through the dermis in several of these atrophic lesions. On the right vulvar area, there were dusky erythematous papillomatous excrescences (Fig 2). The right thumbnail was absent, and the remaining nails were thinned,