Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism

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 dermatologi...

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Published in:Pediatric dermatology 2023-11, Vol.40 (6), p.1081-1085
Main 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
Format: Article
Language:English
Subjects:
Albinism
dermoscopy
Genetic disorders
genotype
Melanin
Microscopy
Mutation
oculocutaneous albinism
optical coherence tomography
Pediatrics
phenotype
Phenotypes
Skin diseases
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Description
Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.15463