Supplementary Material for: Dermatological and Epidemiological Profiles of Patients with Albinism in São Paulo, Brazil, between 2010 and 2017: A Cross-Sectional Study

Introduction: Oculocutaneous albinism is an autosomal recessive disease caused by complete absence of or decrease in melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at greater risk of actinic damage and skin cancer. There are no epidemiological data on the incidence of albinism in Brazil. Objective: To analyze the clinical and epidemiological profile of patients with albinism treated by the Pró-Albino Program of the Dermatology Clinic of Santa Casa de Misericórdia from its beginning in 2010 until 2017. Methods: In this cross-sectional study, the records of all consecutive albino patients admitted to the service in the study period were reviewed. Sociodemographic data, family history, and dermatological clinical data were collected. Results: Between March 2010 and April 2017, 191 patients were admitted, of whom 109 were female (57.07%) and the age range was 0–92 years, with >30% under the age of 18 years. Consanguinity among the parents was confirmed by 26% of the patients. Unprotected sun exposure was reported by 109 (57.07%), and 138 (72.25%) had a history of sunburn. Of the 146 records with information, 38 had skin cancer (26%), with a mean age of 47.4 (p < 0.0001); the youngest patient diagnosed with a cutaneous tumor was 23 years old. The prevalence of actinic damage was high. There was information on solar elastosis and actinic keratosis in 148 medical records, of which 96 (64.8%) patients had elastosis and 75 (50.67%) keratoses. Elastosis, keratosis, and skin cancer were significantly associated with age, unprotected sun exposure, and sunburn (p < 0.05). Of the 37 (26% of the sample of 146) patients with a previous or current history of skin cancer, it was possible to identify the histological type in 29 (13 men and 16 women); of these, 18 (62%) were basal cell carcinomas (BCC), 15 (51%) were squamous cell carcinomas (SCC), and 2 (7%) were melanomas. Of these, 4 cases (14%) presented the 2 types of carcinoma (BCC and SCC), and the 2 that had a diagnosis of melanoma also had BCC. Some patients had multiple ulcerated tumors. The tumor site was preferentially in the head and neck (43%), trunk (37%) and limbs (20%). Conclusions: Albinos represent a risk group for skin cancer and other actinic lesions. These lesions were found to be prevalent in the albinos seen by the program and probably reflect the characteristics found in the Brazilian albino population. Access to health care, especially through multidisciplinary programs that enable the diagnosis and early treatment of these lesions, health education, and the use of photoprotective measures can reduce morbidity and mortality and improve the quality of life of patients with this rare genetic condition.