El color del pelo puede ser un biomarcador de algunas enfermedades (hipopigmentación), por lo que es de importancia conocer la distribución geográfica de algunos caracteres clínicos de base genética.

Trastornos de la pigmentación generalizados.
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1.
Tey H. A Practical Classification of Childhood Hypopigmentation Disorders. Acta Derm Venerol [Internet]. 2010 [cited 2023 Mar 1];90(1):6–11. Available from: https://medicaljournalssweden.se/actadv/article/view/7578
Mutación del MC1R. Pelirrojos nordeuropeos.
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1.
The genetic causes, ethnic origins and history of red hair - Eupedia [Internet]. [cited 2023 Mar 1]. Available from: https://www.eupedia.com/genetics/origins_of_red_hair.shtml

En el albinismo oculocutáneo, en función de la intensidad del déficit enzimático y el problema genético subyacente, pueden existir distintos tonos de color que llegan hasta el pelo pelirrojo o el castaño, por lo que el espectro fenotípico es muy amplio.

Variabilidad fenotipica del albinismo.
Albinismo rufoso (rojo). OCA tipo 3.
Albinoidismo.

Existen un grupo de síndromes que producen un fenotipo similar al del albinismo oculocutáneo y que forman parte del diagnóstico diferencial con éste.

Trastornos adquiridos del color del pelo.
Kwashiorkor.
Saving Babies One Visit at a Time
Trastornos con hipopigmentación focal.
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1.
Tey H. A Practical Classification of Childhood Hypopigmentation Disorders. Acta Derm Venerol [Internet]. 2010 [cited 2023 Mar 1];90(1):6–11. Available from: https://medicaljournalssweden.se/actadv/article/view/7578
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