Skin cancer and actinic keratosis in people with albinism: a systematic review and meta-analysis

Abstract

Background: People with albinism, a genetic condition characterized by reduced melanin production, have an increased risk of developing skin cancer due to their diminished photoprotection. The global prevalence of albinism is estimated at 1 in 17,000 individuals, but it varies significantly by region, being more common in certain parts of Africa. Despite this heightened vulnerability, data on the prevalence of skin cancer and its subtypes in this population remain limited. Objective: This study aimed to determine the prevalence of Skin Cancer (SC) and Actinic Keratosis (AK) among patients with albinism. Methods: A systematic search of PubMed, Embase, Web of Science, and Cochrane databases was conducted, only including cross-sectional and cohort studies. The review adhered to Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Statistical analyses were performed using R software, and heterogeneity was assessed via the I2 statistic. Results: Among 1,747 individuals with albinism from 12 studies, the pooled prevalence of actinic keratosis (AK) was 38% (95% CI 17.7–60.3; I2 = 99%), and that of skin cancer (SC) was 19% (95% CI 13.5–24.4; I2 = 89%). Within the SC group, squamous cell carcinoma (SCC) accounted for 55.4% (95% CI 36.2–73.8; I2 = 94%), basal cell carcinoma (BCC) for 33.7% (95% CI 19.6–49.2; I2 = 91%), and malignant melanoma (MM) for 0% (95% CI 0.00–0.56; I2 = 0%). Conclusion: This study demonstrates a high global prevalence of actinic keratosis (AC) and skin cancer (SC) among individuals with albinism, reinforcing the need for targeted surveillance, preventive strategies, and treatments tailored to this high-risk population. Overall, heterogeneity remained high across outcomes despite the exclusion of individual studies. Study limitations: The results show persistent heterogeneity driven by differences in study design, diagnostic criteria, and the predominance of cross-sectional data. Future research should aim to address these gaps by employing longitudinal designs, standardizing diagnostic criteria, and including detailed patient-level data.