Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Mutations: A Case Report

July 2025 in “ Frontiers in Medicine ”

Ying Xie, Sha Luo, Yumei Yang, Xin Zou, Shuying Lv, Meijiao Du, Yonglong Xu, Xiaojuan Song, Cancan Qi, Nuo Li, Dingquan Yang

LIPH gene autosomal recessive woolly hair hypotrichosis frameshift mutation

TLDR Mutations in the LIPH gene cause woolly hair in a child.

This case report details a 22-year-old female with autosomal recessive woolly hair (ARWH) due to compound heterozygous mutations in the LIPH gene, specifically c.1101del and c.736 T > A. The c.1101del mutation is a novel frameshift variant, adding to the mutation spectrum of LIPH-associated ARWH. The patient showed typical ARWH symptoms, such as tightly coiled, sparse, and fragile hair. Genetic testing confirmed the pathogenicity of these mutations, inherited from each parent. Treatment with topical minoxidil did not lead to significant improvement. The study underscores the need to understand the LIPH/LPA/P2Y5 signaling pathway for developing future treatments.

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research Isolated Autosomal Recessive Woolly Hair/Hypotrichosis: Genetics, Pathogenesis, and Therapies

9 citations , May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.

research Woolly Hair Nevus: A Rare Case with Late Onset in Adolescence

40 citations , February 1990 in “Journal of The American Academy of Dermatology”

A 17-year-old developed woolly hair nevus in adolescence, which is unusual, and over time the hair darkened and straightened slightly, but microscopic changes persisted.