J Eur Acad Dermatol Venereol 2021 Jul 27;35(7):1449-1459. Epub 2021 May 27.
Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Hôpital Universitaire Necker- Enfants Malades, Assistance Publique - Hôpitaux de Paris-Centre (AP-HP5), Paris, France.
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. Read More