Die Haarfarbe kann ein Biomarker für einige Krankheiten (Hypopigmentierung) sein. Daher ist es wichtig, die geografische Verteilung einiger genetisch bedingter klinischer Merkmale zu kennen.
Generalisierte Pigmentstörungen.

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1.
Tey H. Eine praktische Klassifizierung von Hypopigmentierungsstörungen im Kindesalter. Acta Derm Venerol [Internet]. 2010 [zitiert am 1. März 2023];90(1):6–11. Verfügbar unter: https://medicaljournalssweden.se/actadv/article/view/7578
MC1R-Mutation. Nordeuropäische Rothaarige.



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1.
Die genetischen Ursachen, die ethnische Herkunft und die Geschichte der roten Haare – Eupedia [Internet]. 2023 [abgerufen am 1. März 2023]. Verfügbar unter: https://www.eupedia.com/genetics/origins_of_red_hair.shtml
Beim okulokutanen Albinismus kann es je nach Intensität des Enzymmangels und dem zugrunde liegenden genetischen Problem zu unterschiedlichen Farbnuancen bis hin zu roten oder braunen Haaren kommen, sodass das phänotypische Spektrum sehr breit ist.


Albinoidismus.
Es gibt eine Gruppe von Syndromen, die einen ähnlichen Phänotyp wie der okulokutane Albinismus hervorrufen und mit diesem Teil der Differenzialdiagnose sind.
- Hermansky-Pudlak-Syndrom.
- Chediak-Higashi-Syndrom.
- Angelman- und Prader-Willi-Syndrom.
- Vici-Syndrom.
- Griscelli-Syndrom.
Erworbene Haarfarbenstörungen.

Störungen mit fokaler Hypopigmentierung.

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1.
Tey H. Eine praktische Klassifizierung von Hypopigmentierungsstörungen im Kindesalter. Acta Derm Venerol [Internet]. 2010 [zitiert am 1. März 2023];90(1):6–11. Verfügbar unter: https://medicaljournalssweden.se/actadv/article/view/7578

- Waardenburg-Syndrom.
- Tietz-Syndrom (Albinismus-Taubheit).
- Piebaldismus.
- Tuberöse Sklerose.
