Autosomal Recessive Woolly Hair/Hypotrichosis With Homozygous Mutation in the LIPH Gene: A Case Report

May 2025 in “ Dermatology Reports ”

Khalid Alwunais, Jamal Alqahtani, Abdullah Ali N Aljalfan, Hind Alotaibi

autosomal recessive woolly hair hypotrichosis LIPH gene genetic mutation

TLDR A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

This case report describes an 11-month-old Saudi boy diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), a hereditary hair disorder characterized by sparse, short, and curly hair. The diagnosis was confirmed through DNA sequencing, which identified a homozygous mutation in the LIPH gene at c.280_369dup. This mutation is responsible for the boy's hair condition, highlighting the genetic basis of ARWH/H linked to mutations in the LIPH gene.

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