Aplasia cutis congenita: Two case reports and discussion of the literature

Abstract

Background: Aplasia cutis congenita (ACC) is a part of a heterogeneous group of conditions characterized by the congenital absence of epidermis, dermis, and in some cases, subcutaneous tissues or bone usually involving the scalp vertex. There is an estimated incidence of 3 in 10,000 births resulting in a total number of 500 reported cases to date. The lesions may occur on every body surface although localized scalp lesions form the most frequent pattern (70%). Complete aplasia involving bone defects occurs in approximately 20% of cases. ACC can occur as an isolated defect or can be associated with a number of other congenital anomalies such as limb anomalies or embryologic malformations. In patients with large scalp and skull defects, there is increased risk of infection and bleeding along with increased mortality and therefore prompt and effective management is advised.

Case description: We describe two cases of ACC, involving a 4 × 3 cm defect managed conservatively and a larger 10 × 5 cm defect managed surgically with the use of a temporo-occipital scalp flap. Both cases had an excellent outcome.

Conclusions: Multiple treatment regimens exist for ACC, but there is no consensus on treatment strategies. Conservative treatment has been described and advocated, but many authors have emphasized the disadvantages of this treatment modality. Decision between conservative and surgical management must be individualized according to lesion size and location.

Keywords: Aplasia cutis congenita; congenital anomalies; cranial reconstruction; scalp reconstruction.

Figure 1

The largest (4×3) bullous defect of the first case

Figure 2

All 3 scalp bullous defects of the first case

Figure 3

The CT scan, confirmed the defects which involved both bone and skin layers, and revealed suture diastasis with thinning and hypoplasia of fronto-parietal bones

Figure 4

Our second case had an extensive defect (10×5) above the fronto-occipital regions of the scalp

Figure 5

A thin membrane was covering the defect in immediate proximity to the superior sagittal sinus

Figure 6

MRI confirmed that the defect included scalp and skin layers and revealed complete loss of continuity of the dermal and subcutaneous tissues