A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome

by medihelp
Yasmin Alfayez, Sahar Alsharif,* and Adel Santli

Case Report

A 4-h-old male newborn presented with complete absence of skin over the anteromedial aspect of both lower legs since birth. The baby was born to a 23-year-old primigravida mother via normal vaginal delivery. Both pregnancy and delivery were uncomplicated. The mother denied any history of exposure to medications or radiation during her pregnancy. The parents were not relatives. There was no family history of similar conditions or any skin diseases.

The baby’s Apgar scores were normal, but he was admitted to the neonatal intensive care unit due to this skin lesion. Otherwise, the baby seemed to be in a good health. He had normal weight, length, head circumference, and vital signs. On physical examination, there were symmetrical bilateral absences of skin over the anteromedial aspect of the legs, starting from the knees and extending to the dorsal and medial plantar aspect of the feet. The lesions had sharply demarcated borders covered by a red ultrathin translucent membrane, and vascular structures were easily visualized (Fig. ​1). Some nails of the fingers and toes were dystrophic. The scalp and the mucous membranes were not affected. Systemic examination was normal. After 5 days, the baby developed blisters over the preexisting lesions. Blistering also appeared over normal skin in response to minor trauma or friction.

Please note that this image might contain sensitive content. Click to unblur.
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.

Several laboratory investigations were performed; the baby’s complete blood count, electrolytes, as well as liver and renal function tests were within normal limits, and serologic tests for infection were negative. Ophthalmological examination, abdominal and cranial ultrasound screening, and echocardiography revealed normal findings.

A skin biopsy was taken from a fresh blister over the thigh. Histopathological study of the skin biopsy showed subepidermal blister formation, which was consistent with epidermolysis bullosa. Immunofluorescence staining and electron microscopy were not available in our hospital. The combination of congenital localized absence of skin over the lower extremities, epidermolysis bullosa, and nail abnormalities led to the diagnosis of aplasia cutis congenita (ACC) type VI (Bart syndrome).

We performed conservative wound care with topical antibacterial cream (fusidic acid cream 2%) applied twice per day and nonadhesive dressing. After 1 week, the infant was discharged, and the mother was given detailed instructions about handling the baby and continuing local wound care.

The patient returned for follow-up in the outpatient dermatology clinic every 2 weeks for 2 months. At the 2-month follow-up visit, the patient was in good health and was well fed on formula without any complications. There was no difficulty in urination or defecation. The previous lesion healed with scarring and milia formation (Fig. ​4, Fig. 5).

Please note that this image might contain sensitive content. Click to unblur.
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.
Please note that this image might contain sensitive content. Click to unblur.
Fig. 5.
Milia formation.
Auto closing in 2 seconds
This article is intended for educational purposes. All credit to the authors.

Related Posts