A Case of Aplasia Cutis Congenita, Type VII: CASE REPORT

A newborn male presented with a large ulcer on the right leg which had been present since birth. There was no significant antenatal or family history. The mother had no specific disease or drug history prior to or during the pregnancy. He was born through normal vaginal delivery at 39 weeks’ gestation with a weight of 3.4 kg. On physical examination, a large ulcer was found, with a length of about 20 cm on the right leg from the knee area to the medial dorsal foot (Fig. 1). The toenails, teeth and mucosa of the mouth were not affected, and there was no blistering anywhere on the body.

Fig. 1. Large ulcer about

Fig. 1. Large ulcer about 20 cm length along the right leg without nail dystrophy. On the day of birth. Arrow indicates biopsy site.

Fig. 2. A skin biopsy specimen

Fig. 2. A skin biopsy specimen taken from the lesion (A) showed absence of epidermis and inflammatory infiltrate and proliferation of blood vessels in the dermis, when compared with proximal normal skin (B) (H&E, x100).

The routine laboratory results were within normal limits and the serologic analysis for TORCH yield negative results. A punch biopsy taken from the ulceration on the thigh 5 days after birth showed the absence of epidermis and inflammatory infiltrate as well as proliferation of blood vessels in the dermis (Fig. 2). There was no evidence of a hemangioma or variant malformation and the histologic pattern resembled nonspecific granulation tissue. Further­more, the results of the direct immunofluorescence test using IgG, IgA, C3 antibody were normal. Initially the ulceration appeared shiny, red and was translucent with good visible blood vessels. 15 days later, hyperproliferative granulation tissue developed and blood clots were observed (Fig. 3). To avoid mental and physical development has been normal.
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Fig. 3. Clinical features 15 days

Fig. 3. Clinical features 15 days after birth. New hyper- proliferative granulation tissue has appeared and blood clots were observed.

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