Management of albinism: French guidelines for diagnosis and care.
Journal
Journal of the European Academy of Dermatology and Venereology : JEADV
ISSN: 1468-3083
Titre abrégé: J Eur Acad Dermatol Venereol
Pays: England
ID NLM: 9216037
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
24
04
2020
accepted:
22
03
2021
pubmed:
28
5
2021
medline:
22
6
2021
entrez:
27
5
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
Melanins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1449-1459Informations de copyright
© 2021 European Academy of Dermatology and Venereology.
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