Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

Abstract

OBJECTIVE: Oculocutaneous albinism describes a group of pigmentary disorders that lead to skin sensitivity and predisposition to skin malignances. Aims:To analyze clinical and epidemiological data in oculocutaneous albinism patients and to determine the prevalence of malignant skin lesions, assessing possible risk factors for skin cancer.METHODS: Cross-sectional study evaluating epidemiological data, habits of sun exposure and sun protection, and clinical examination of albino patients followed in a reference dermatology outpatient clinic in Brasil. Our primary outcome was the occurrence of malignant skin lesions in biopsied tissues. RESULTS:Of 74 patients analyzed, 11 (15%) had one or more suspicious lesions and were biopsied, of which 8 (72.7%) patients presented with basal cell carcinomas, 7 (63.3%) presented with squamous cell carcinoma, and 1 (9%) presented with melanoma. Moreover, 32(43%) patients presented with actinic keratosis. Age, female gender, previous history of sunburn, history of malignant lesions and history of sun exposure without photoprotection were associated with the presence of malignant lesions.Limitations: Unicentric, non-aleatory sample.CONCLUSIONS: There was a high prevalence of malignant and pre-malignant lesions in this population. Some potentially modifiable risk factors were associated with the occurrence of malignant skin lesions.

Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3

“…Melanoma is rare, and we found no reported cases of melanoma, however, cases of amelanotic melanoma in HPS have been previously reported in the literature [15]. This is consistent with findings of patients with albinism in Brazil and several countries in Africa [16][17][18][19][20][21]. Acne was the most common skin condition in our sample which is consistent with its high prevalence in the general United States (U.S.) population.…”

Revisión bibliográfica sobre Albinismo Oculocutáneo y Ocular

“…El AOC es un trastorno autosómico recesivo que se caracteriza por la interrupción de la vía de biosíntesis de la melanina afectando en grado variable a ojos, cabello y piel (1,17). Debido a las alteraciones pigmentarias, los pacientes con AOC son más propensos a una mayor morbimortalidad relacionado con el desarrollo de lesiones cutáneas premalignas y malignas, incluso en edades tempranas (18).…”

“…Es así que Zhang et al (69) mencionan que las lesiones dérmicas como hiperpigmentación, quemaduras solares, nevos anormales o manifestaciones de queratosis actínica son en gran medida manifestaciones predisponentes para que un paciente con albinismo oculocutáneo desarrolle algún tipo de cáncer de piel, por lo que el tratamiento será de importancia para mejorar su calidad de vida, sin embargo, el primer paso para lograr corregir estas lesiones es la prevención por parte del personal de salud. Nogueira Ramos et al (18), en su estudio realizado en Brasil, donde buscaban analizar la prevalencia de lesiones malignas en pacientes con albinismo demostraron que la queratosis actínica era la lesión más común en los pacientes suponiendo un 43%, además se encontró que los pacientes que se exponían en mayor medida al sol, y sin una medida de fotoprotección se asociaron con un aumento de lesiones dérmicas malignas. Schidlowski et al (70) determinaron que otra de la sintomatología que perjudica la calidad de vida del paciente es la transiluminación del iris, la macula transparente y el nistagmus.…”

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge

“…The worldwide prevalence of all forms of OCA was estimated at 1:17,000 by Witkop et al (1989 ). Although this is an old publication, it is still generally referred to by most authors ( Ramos et al, 2021 ). Studies at the country level show that OCA1 is more prevalent in white populations, while OCA2 is predominant in African countries.…”