La couleur des cheveux peut être un marqueur biologique de certaines maladies (hypopigmentation), ce qui rend important de connaître la distribution géographique de certains caractères cliniques de base génétique.

Troubles de pigmentation généralisée.
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Tey H. Une classification pratique des troubles d'hypopigmentation infantile. Acta Derm Venerol [Internet]. 2010 [cité le 1er mars 2023];90(1):6-11. Disponible à partir de : https://medicaljournalssweden.se/actadv/article/view/7578
Mutation of MC1R. Pelirouge nord-européen.
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Les causes génétiques, origines ethniques et histoire des cheveux roux - Eupedia [Internet]. 2023 [cité le 1er mars 2023]. Disponible à partir de : https://www.eupedia.com/genetics/origins_of_red_hair.shtml

Dans l'albinisme ocular-cutané, en fonction de l'intensité du manque enzymatique et du problème génétique sous-jacent, peuvent exister différents tons de couleur qui atteignent le cheveu bruni ou brun, ce qui rend le spectre phénotypique très large.

Variabilité phénotypique de l'albinisme.
Albinisme brûlé (rouge). OCA type 3.
Albinisme

Il existe un groupe de syndromes qui produisent un phénotype similaire à celui de l'albinisme ocular-cutané et qui forment partie du diagnostic différentiel avec celui-ci.

Troubles de couleur des cheveux acquises.
Troubles avec une hiperpigmentation focale.
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1.
Tey H. Une classification pratique des troubles d'hypopigmentation infantile. Acta Derm Venerol [Internet]. 2010 [cité le 1er mars 2023];90(1):6-11. Disponible à partir de : https://medicaljournalssweden.se/actadv/article/view/7578