Forceps were required to deliver the infant. The right lower extremity is noted immediately to have a large defect similar to an erosion (Fig. 13-8). The right and left legs are of equal length and demonstrate good mobility. Per delivery records there were no other erosions, cutaneous defects, or anomalies noted with the initial assessment after birth. Both the maternal and paternal medical histories were unknown. The mother did not have any prenatal care.
What is the diagnosis?
A. Birth trauma
B. Aplasia cutis congenita (ACC)
C. Goltz syndrome
D. Adams–Oliver syndrome
E. Amniotic band syndrome
The correct answer is B. ACC is part of a heterogeneous group of disorders characterized by the absence of a portion of skin in a localized or widespread area at birth. It most commonly (70%) manifests as a solitary defect on the scalp but may occur anywhere on the body. While forceps were reportedly used in delivery, the location of the defect on the leg is not consistent with forceps injury which would be most likely to appear on the head. Infants with Goltz syndrome may present with ACC associated with streaky plaques of atrophy within the lines of Blaschko. Adams–Oliver syndrome presents with a large scalp ACC in association with limb reduction abnormalities, cranial bone defects, and cutis marmorata telangiectatica. The infant described did not have any other anomalies. Neonates with amniotic band syndrome present with constriction or amputation-like scaring defects.