Background Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11. The diagnosis of patients suffering from both pathologies is necessary to enable dedicated monitoring of any complications at the ophthalmic and skin level. However, few cases are described in the literature. Case presentation A 14-month-old Congolese male child affected by oculocutaneous albinism, presented with pallor and jaundice. Blood indices revealed severe hemolytic anemia, which led to the diagnosis of sickle cell disease. The patient received a blood transfusion and close follow-up. Conclusions The co-inheritance of sickle cell disease and oculocutaneous albinism is a reality in the Democratic Republic of Congo, although it is rarely described. Given the current state of our knowledge, specific surveillance, specifically regarding cutaneous and ophthalmological complications, should be offered in this particular population. To enable this dedicated follow-up, sensitization to screening for sickle cell anemia in albino individuals should be carried out.
Albinism is a genetic mutation that affects the production of melanin in the skin, hair and eyes, making people with albinism vulnerable to ultraviolet radiation, with a greater susceptibility to skin cancer. In the Democratic Republic of Congo (DRC) access to care for people with albinism remains difficult. The province of Kasai Oriental is reported to have a large number of people with albinism and no local documentation has been provided to date. The objective of this pilot study was to describe the epidemiological and clinical aspects of albinism, which will enable the development of programs to prevent albinism-related complications in Mbujimayi, Kasai Oriental. This is a cross-sectional and descriptive study conducted in the town of Mbujimayi, capital of the province of Kasai Oriental, among people with albinism over a period of 7 days. Dermatological and ophthalmological diagnoses were essentially clinical. A total of 77 people with albinism of both sexes, most of them under 30 years of age, from all over the town were seen in consultations. Regarding albinism-related diseases, we observed basal cell and squamous cell carcinomas in identical proportions. In general, 78% of the people with albinism seen were at their first medical visit for a dermatological examination and only 4.2% of the people with albinism applied sunscreen. The present study revealed a not negligible frequency of albinism with a presence of pre-cancerous and cancerous lesions and a low rate of dermatological medical visits. This confirms the difficult access to medical care and information, justifying this very low photoprotection.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.