髪の色は、いくつかの疾患（色素沈着低下）のバイオマーカーである可能性があるため、遺伝的根拠を持ついくつかの臨床形質の地理的分布を知ることが重要です。
広範囲の色素沈着障害。
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1.
Tey H. 小児色素沈着減少症の実際的な分類。 Acta Derm Venerol [インターネット]。 2010 [2023 年 3 月 1 日引用];90(1):6–11。以下から入手可能: https://medicaljournalssweden.se/actadv/article/view/7578
MC1R 変異。 北ヨーロッパの赤毛.
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1.
赤毛の遺伝的原因、民族的起源、歴史 - Eupedia [インターネット]。 2023年 [2023年3月1日引用]。以下から入手可能: https://www.eupedia.com/genetics/origins_of_red_hair.shtml
眼皮膚白皮症では、酵素欠損の程度と根底にある遺伝的問題に応じて、赤毛や茶色の毛までさまざまな色の色合いが見られるため、表現型のスペクトルは非常に広いです。
アルビノイド症。
眼皮膚白皮症と同様の表現型を示し、それとの鑑別診断の一部となる一連の症候群が存在します。
- ヘルマンスキー・パドラック症候群。
- チェディアック・ヒガシ症候群。
- エンジェルマン症候群とプラダーウィリ症候群。
- ヴィシ症候群。
- グリシェリ症候群。
後天性のヘアカラー障害。
局所的な色素沈着低下を伴う疾患。
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Tey H. 小児色素沈着減少症の実際的な分類。 Acta Derm Venerol [インターネット]。 2010 [2023 年 3 月 1 日引用];90(1):6–11。以下から入手可能: https://medicaljournalssweden.se/actadv/article/view/7578
- ワールデンブルグ症候群。
- ティーツ症候群（白皮症 - 難聴）。
- 斑状禿げ症。
- 結節性硬化症。