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

Background: 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.

Methods: Two patients with SCM are reported.

Results: 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.

Conclusions: 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.