Aplasia cutis congenita: management of a large skull defect with acrania

Abstract

Aplasia cutis congenita is a rare disorder characterized by absence of skin. Lesions typically occur on the vertex and are sometimes small, but they can affect deep tissues such as the skull bone and dura. Mortality is related to the depth and size of the lesion and can amount to a rate of more than 50% when full thickness is involved. The treatment remains controversial -- both surgical and conservative managements are described. Minor lesions can be controlled with nonsurgical treatment, but large defects require early surgery. We report the case of a female newborn with acrania and scalp aplasia cutis congenita, which was treated with a bipedicle scalp flap based on the temporal vessels. Full- and partial-thickness skin grafts were used to cover the donor site on the temporo-occipital region. Postoperatively, the patient developed a liquorice cyst, which was treated with a shunt, and she has been followed up for evaluation of the bony defect closure and skull morphology. Her neuropsychomotor development is normal.