64 - Developmental Anomalies

Abstract

Developmental anomalies are congenital disorders that represent either malformations due to faulty embryologic development or disruptions caused by damage to normally developing structures. Midline skin lesions on the nose and scalp often represent developmental anomalies with the potential for intracranial extension, including dermoid cysts as well as neural tube defects such as cephaloceles and heterotopic brain or meningeal tissue. Likewise, cutaneous lesions overlying the spine can serve as a marker for spinal dysraphism. Aplasia cutis congenita reflects abnormal or disrupted intrauterine skin development and can be approached clinically based on the morphology and distribution of the lesions and the types of associated findings. Other developmental anomalies include congenital lips pits, branchial cleft sinuses, cutaneous dimples, abnormal dermatoglyphs, the amniotic band sequence, and accessory tragi, nipples and digits. Some are isolated defects while others are associated with additional cutaneous or visceral manifestations. The most common and significant developmental anomalies, their evaluation, and therapeutic interventions are reviewed.