Background: Skull defects in aplasia cutis congenita of the scalp are rare but high-risk due to exposed underlying tissues. Because of its rarity, no clear consensus exists regarding optimal management. This study reviews published cases to evaluate clinical features, outcomes, and their relation to treatment strategies.
Methodology: A systematic review was conducted per PRISMA guidelines, including case reports and series (1970-2024) from PubMed, Scopus, Embase, Web of Science, and PsychINFO. Data were pooled and cases grouped by conservative vs. surgical management for comparison.
Results: Out of 1,230 articles, 83 studies (102 patients) met inclusion. Median age at presentation was the day of birth. Majority of patients were females (51.7%). Spontaneous vaginal delivery occurred in 54.6%, with syndromic associations in 48.6%. Most lesions were solitary (88.8%), vertex-located (78.4%), and averaged 7.9 cm. Dural defects were reported in about 50%; 66.7% had exposed sagittal sinuses. Surgery was performed in 69.6% of cases, and fewer than 30% achieved full skin and bone closure. Hemorrhage and infection were the most common complications; mortality was 10.9%. Overall complications were nearly twice as frequent with surgery, though closure and mortality rates were similar. One-third of surgeries were a combination of failed conservative management, staged procedures or reoperation.
Conclusion: Surgical management was common but not clearly linked to better outcomes. Treatment decisions appear to be individualized and influenced by expertise and resources. Standardized reporting and prospective studies are needed to clarify associations between treatment approaches and outcomes.
Keywords: Conservative management; Dural defect; Sagittal sinus exposure; Skull defect; Surgical management.
© 2026. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.