Aplasia cutis congenita: a rare cutaneous sign of split cord malformations

Aplasia cutis congenita (ACC) is characterized by the absence of a portion of skin in a localized or widespread area at birth. It manifests usually as a solitary defect on the scalp, but sometimes may occur on the face, trunk, or limbs. ACC is most often a benign isolated defect, but can be associated with other physical anomalies or malformation syndromes. A few cases have been reported in which patients with split cord malformation (SCM) have presented with ACC.

Two patients with SCM are reported.

Both patients presented with ACC and abnormal hair growth on their backs. Type II SCM was detected in the first patient and Type I SCM in the second. No surgical treatment was performed because the patients were neurologically intact.

ACC may seldom manifest as a skin marker of SCM. Our patients are unique examples of SCM presenting with ACC, but not requiring surgery. It is important to recognize ACC as a cutaneous sign of SCM, and to refer these patients to radiologic evaluation as soon as possible.