Background: Multiple studies have examined the prevalence of nonmelanoma skin cancers (NMSC) in patients with oculocutaneous albinism (OCA). However, to date, no studies have examined this data in Caribbean populations.

Methods: This study is a cross-sectional study of 106 patients with OCA who were seen at the Oculocutaneous Albinism Clinic in Port-au-Prince and Gros Morne, Haiti, between the dates of February 2017 and June 2018.

Results: In our population, 31/106 (29%) patients were found to have NMSC, 10/31 (32%) had BCC, 12/31 (39%) had SCC, and 9/31 (29%) had both types of NMSC. The most common age groups were 31-40 years, with the overall range of ages being 18-63 years. Also, 60/106 (57%) of the patients had actinic keratoses (AK).

Conclusions: Our study provides new data examining the prevalence of NMSC within a population of patients with OCA in Haiti. Overall, it shows that patients with albinism develop NMSC at an earlier age compared with the rest of the population. Therefore, appropriate skin cancer screening and surveillance should be implemented within this high-risk population group.

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.16199DOI Listing

Publication Analysis

Top Keywords

oculocutaneous albinism
12
prevalence nonmelanoma
8
nonmelanoma skin
8
skin cancer
8
population patients
8
patients oculocutaneous
8
studies examined
8
patients oca
8
patients
7
population
5

Similar Publications

Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.

J Med Case Rep

December 2024

Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.

Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.

View Article and Find Full Text PDF

Congenital depigmentation may be associated with congenital sensorineural hearing loss leading to non-development of verbal speech. To illustrate the clinical features and work-up of 3 children diagnosed with auditory pigmentary disorders (APDs). Case series with a review of the literature.

View Article and Find Full Text PDF

Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.

Pigment Cell Melanoma Res

January 2025

Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Genetics and Birth Defects Control Center, National Center for Children's Health, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, Beijing, China.

Article Synopsis
  • - Oculocutaneous albinism type 2 (OCA-2) is linked to changes in the OCA2 gene, and this study aims to better classify uncertain gene variants using a method called multiplex assays of variant effect (MAVEs).
  • - By analyzing variants from publicly available data, the research found that pathogenic variants behaved abnormally while benign ones worked normally, supporting a structured re-classification process for uncertain variants.
  • - Out of 38 patients, the analysis provided a clearer diagnosis for 7 individuals, demonstrating the effectiveness of MAVEs for improving genetic testing and offering a valuable resource for future research and public clinical databases.
View Article and Find Full Text PDF

Chedíak-Higashi Syndrome: Hair-to-toe spectrum.

Semin Pediatr Neurol

December 2024

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Chedíak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking Regulator (LYST) gene, leading to defective lysosomal function in immune cells, melanocytes, and neurons. Clinically, CHS is characterized by a spectrum of symptoms, including immunodeficiency, partial oculocutaneous albinism, bleeding tendencies, neurodevelopmental deficits and progressive neurodegenerative symptoms. The severity of CHS correlates with the type of LYST mutation: the classic form, linked to nonsense or frameshift mutations, presents early in childhood with severe immune dysfunction, recurrent infections, and a high risk of hemophagocytic lymphohistiocytosis (HLH), a life-threatening hyperinflammatory state.

View Article and Find Full Text PDF

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defects in lysosome-related organelles. Given the high mortality rate associated with HPS pulmonary fibrosis (PF) and the significant risks tied to lung transplantation, it is essential to explore new tools for the early surveillance of PF to monitor its progression before clinical symptoms become apparent. This study evaluates the forced oscillation technique (FOT) for assessing PF in five adult patients with HPS, all homozygous for the (c.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!