Publications by authors named "Guillermo J Jimenez Thomas"
Pediatr Dermatol
November 2023
Article Synopsis
- - Oculocutaneous albinism (OCA) is a genetic disorder affecting melanin production, studied in pediatric patients through dermatological and ophthalmological exams, including advanced imaging techniques like OCT.
- - The study found that individuals with a single pathogenic mutation showed milder symptoms, while more severe cases were linked to a greater number of genetic mutations and polymorphisms.
- - A common observation across all OCA subgroups was paler dermoscopic patterns, particularly varied vascular patterns, which indicated more severe presentations of the disease.
