Loading…

Management of albinism: French guidelines for diagnosis and care

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco‐cutaneous and adnexal hypopigmentation, as well as ocular features inc...

Full description

Saved in:
Bibliographic Details
Published in:Journal of the European Academy of Dermatology and Venereology 2021-07, Vol.35 (7), p.1449-1459
Main Authors: Moreno‐Artero, E., Morice‐Picard, F., Bremond‐Gignac, D., Drumare‐Bouvet, I., Duncombe‐Poulet, C., Leclerc‐Mercier, S., Dufresne, H., Kaplan, J., Jouanne, B., Arveiler, B., Taieb, A., Hadj‐Rabia, S.
Format: Article
Language:English
Subjects:
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco‐cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Clinical and molecular characterizations are essential in preventing potential complications. Disease‐causing mutations remain unknown for about 25% of patients with albinism. These guidelines have been developed for the diagnosis and management of syndromic and non‐syndromic forms of albinism, based on a systematic review of the scientific literature. These guidelines comprise clinical and molecular characterization, diagnosis, therapeutic approach and management.
ISSN:0926-9959
1468-3083
DOI:10.1111/jdv.17275