Aplasia cutis congenita (ACC) is a rare, congenital defect of the skin, which mostly affects the scalp and the trunk. The main complications include bleeding and infection. We present a rare case of ACC that involved solely the eyelid and confirms the effectiveness of conservative therapy.

Case report

A Chinese female neonate was referred to us because of skin and lash defect in the upper eyelid with a granulation tissue at the base at birth (Figure 1a). She was a full-term otherwise healthy baby delivered by caesarean section. On the second day of the birth, there was a lot of ocular discharge and the granulation became scabby (Figure 1b).

Figure 1
figure 1

The defect of the left upper eyelid at birth (a) and massive purulent discharge in the conjunctiva sac on the second day (b). The mass disappeared in 1 month, leaving a small defect in the lid margin but an intact tarsus (c). Twenty-four months after birth, she looked normal at the primary gaze (d) but revealed a lid margin defect only at the down gaze (e).

Full size image

The smear and culture of the discharge at the conjunctiva sac showed Staphylococcus aureus, which was sensitive to tobramycin, ampicillin, and a series of antibiotics. We thus applied tobramycin eye drops every 2 h during the day time and tobramycin ointment at night and removed the scab every day. Two weeks later the eye became clean. The granulation tissue diminished with time and disappeared in 1 month, leaving a small defect in the lid margin but an intact tarsus (Figure 1c). Two years after birth, the child grew up healthy without any other abnormality. The defect in the lid margin was not apparent at the primary gaze (Figure 1d), but revealed a lid margin defect only at the down gaze (Figure 1e).

Discussion

Aplasia cutis congenita (ACC), first described by Cordon and Campbell in 1767, is a rare congenital disorder of the skin characterized by the absence of a portion of skin present at birth. The incidence is between 0.5 and 1 per 10 000 newborns.1 The scalp and the trunk are the commonly affected places, whereas the eyelid is seldom involved.1, 2, 3 The aetiology of this condition remains unclear, although numerous theories have been proposed. These theories include genetic factors, intrauterine trauma, developmental anomalies, and teratogens.1, 4

According to our literature review, this is the first case report of ACC that involves solely the eyelid.1, 2, 3, 4, 5 As reported herein, conservative treatments are sufficient if directed to preventing and controlling microbial infection at the early stage. Ocular plastic surgery was not necessary because the tarsus was intact and the eye could completely be closed to avoid the risk of exposure keratitis.