Aplasia cutis congenita: report of 22 cases

Abstract

Background: Aplasia cutis congenita (ACC) is a rare malformation characterized by absent or scarred areas of skin at birth. Although most commonly found on the scalp, ACC can also involve other locations. Its etiology and pathogenesis remain unclear.

Objective: To describe the epidemiologic, clinical, therapeutic, and evolutionary aspects of ACC through a hospital series.

Methods: We conducted a retrospective study from 1995 to 2012 and reported all cases of ACC.

Results: We enrolled 22 cases (14 girls and eight boys) of ACC during 18 years. The mean age at diagnosis was 5.7 years. Sixteen ACC involved the scalp, five the trunk, and one the left buttock. ACC was oval-shaped in 20 cases, triangular in one case, and linear in one case. The mean size was 4 cm. ACC was associated with bone defects in two cases, various malformations in eight (37.1%), and with syndromic malformation in three (Adams-Olivier syndrome: two cases; Goltz syndrome: one case). Conservative treatment consisting of wound dressing with vaseline was indicated in six cases. Bone reconstruction was performed in two cases. Regular follow-up and no treatment was recommended in 14 cases.

Conclusion: Our study emphasizes the frequent association of ACC with malformations (37.1%) and bone defects (9%).