Congenital cutaneous aplasia of the limbs: A case report

Congenital skin aplasia, or aplasia cutis congenita (ACC), is a rare congenital anomaly. The incidence is estimated to be between 0.5 and 1 in 10,000 births. We report an observation of ACC of the limbs in a female newborn at D3 of life.

Female newborn at D3 of life, born at term by vaginal delivery with a birth weight of 2, 900kg. The general examination revealed a hemodynamically and respiratorily stable and apyretic newborn. The dermatological examination noted the presence of translucent exulcerations on both wrists, the inner side of the left knee, and the distal end of the left leg. In view of this clinical aspect, the diagnosis of ACC was evoked. The management was to hospitalize the newborn in a neonatology unit, do a biological check-up with a trans-fontanelle ultrasound, echocardiography, and abdominal ultrasound, associated with daily care.

Many hypotheses have been put forward to explain the pathophysiological mechanism of CCA, whether isolated or associated with other anomalies. However, at present, the origin of this malformation remains unknown. There is no unambiguous management in the initial phase, as it depends on the type of CCA.

Because of the different possible clinical presentations and existing syndromic associations, it can be thought that it corresponds to a phenotypic expression of various origins, which may be interrelated.