Aplasia Cutis: From Diagnosis to Management-2 Decades of Clinical Insights.

BACKGROUND

Aplasia cutis congenita (ACC) causes local skin absence, usually on the scalp, with potential underlying skin layer involvement. ACC carries severe risks, including hemorrhage and a 20% to 55% mortality rate. Despite various classification systems, a validated treatment algorithm is lacking. This study validates a novel classification-guided treatment approach for ACC that has been used over the past 2 decades.

METHODS

A retrospective analysis of ACC cases at Soroka University Medical Center from 2000 through 2024 was conducted. Patients were classified on the basis of defect size, tissue involvement, and vascular exposure. Characteristics, treatment, outcomes, and mortality rates before and after implementing the classification-guided approach were investigated.

RESULTS

A total of 77 ACC cases were evaluated over 24 years. The scalp was affected in 96.1% of cases, with defect size ranging between 0.25 and 150 cm 2 . Surgical intervention was performed in 18.2% of cases. Limb anomalies were present in 20.8% of cases, with prevalence increasing with an increase of defect severity ( P = 0.001). Adam-Oliver syndrome was diagnosed in 10.4% of patients. The mortality rate decreased from 37.5% (3 of 8) before 2008 to 0% (0 of 22) after 2008 in the high-risk group ( P = 0.017). All deaths occurred in patients with type III ACC due to massive hemorrhage following delayed surgical intervention. The Integra dermal regeneration template was used successfully as an effective single-stage treatment for some extensive defects.

CONCLUSIONS

This classification-guided treatment approach has improved ACC outcomes in high-risk cases. Immediate surgical intervention for severe cases results in significantly reduced mortality rates.

CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.