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.
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http://dx.doi.org/10.1111/ijd.16199 | DOI Listing |
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.
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December 2024
Department of Otorhinolaryngology and Head-Neck Surgery, Medical College and Hospital, Kolkata, West Bengal, India.
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 PDFPigment 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.
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 PDFAdv Respir Med
October 2024
Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA.
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.
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