Aplasia cutis congenita is a congenital disorder seen in newborns. It typically manifests as an absence of the skin of the scalp but can occur in any location. While most children have no other associated abnormalities, cleft lip and palate, tracheoesophageal fistula, double cervix and uterus, patent ductus arteriosus, coarctation of the aorta, cutis marmorata telangiectatica congenita, AV fistulas, CNS dysraphisms, and intestinal lymphangiectasia have been reported with the anomaly. The newborn can present with open erosion or a healed, depressed scar.
ICD10CM: Q84.8 – Other specified congenital malformations of integument
SNOMEDCT: 35484002 – Aplasia cutis congenita
Differential Diagnosis & Pitfalls
Many cases of aplasia cutis congenita do not have other associated findings. However, the lesion has been associated with trisomy 13, which should be considered if other signs and symptoms of trisomy 13 are present.