A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome

Abstract

Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination. There was no systemic involvement such as pyloric atresia, ureteral stenosis, renal abnormalities, or arthrogryposis. All laboratory work and imaging studies were normal. A diagnosis of Bart syndrome was made based on previous presentation. We managed the patient with conservative methods. Complete epithelialization occurred after several weeks.

Keywords: Aplasia cutis congenita type VI; Bart syndrome; Conservative treatment; Epidermolysis bullosa.

Fig. 1.

a, b Symmetrical bilateral absence of skin over the anteromedial aspect of the legs, starting from the knees and extending to the dorsal and medial plantar aspects of the feet. The lesions have sharply demarcated borders covered by a red ultrathin translucent membrane, and vascular structures were easily visualized.

Fig. 2.

Over the inner aspect of the left arm, there were blisters and erosion.

Fig. 3.

Histopathological study of a skin biopsy showed subepidermal blister formation consistent with epidermolysis bullosa. H&E, ×4.

Fig. 4.

a, b After 2 months, the lesions were completely healed with hypopigmented scarring and milia formation. There were also some bullae, as shown by the arrows.

Fig. 5.

Milia formation.