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- Title
Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism.
- Authors
Liñán‐Barroso, Juan Manuel; Mantrana‐Bermejo, María Eugenia; Durán‐Romero, Antonio José; Ortiz‐Álvarez, Juan; Monserrat‐García, María Teresa; Jiménez‐Thomas, Guillermo José; Conejo‐Mir Sánchez, Julián; Bernabéu‐Wittel, José
- Abstract
Oculocutaneous albinism (OCA) is a genetic disease caused by disorders in melanin synthesis or distribution. In this descriptive study conducted in a tertiary care pediatric hospital, patients with a clinical diagnosis of OCA and genetic study were retrospectively recruited and underwent dermatological and ophthalmological exam, including optical coherence tomography (OCT) and digital dermoscopy. Our findings revealed milder OCA phenotypic expression in individuals harboring single pathogenic mutations in conjunction with polymorphisms, as well as in those with mutations of uncertain significance. Regardless OCA subgroup, severe phenotypes of OCA were associated with a higher number of mutations/polymorphisms in melanin biosynthesis genes and paler dermoscopic patterns, such as vascular pattern, which was the most common pattern in our series.
- Subjects
ALBINOS &; albinism; OPTICAL coherence tomography; DERMOSCOPY; MELANOGENESIS; CHILDREN'S hospitals
- Publication
Pediatric Dermatology, 2023, Vol 40, Issue 6, p1081
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.15463