Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients

November 2025 in “ Clinical Cosmetic and Investigational Dermatology ”

Can Cui, Xi Chen, Yingzi Zhang, Jianyi Ni, Jin-Yuan Ma, Aihua Wei

autosomal recessive woolly hair LIPH mutations c.454G>A p.G152R

Studysummary LIPH mutations cause woolly hair in some Chinese people. Our plain-language summary of this paper — not a Tressless recommendation.

This study investigates autosomal recessive woolly hair (ARWH) caused by LIPH mutations in six Chinese patients, highlighting the c.454G>A (p.G152R) variant as a potentially recurrent allele in this population. The findings contribute to a broader understanding of LIPH-related ARWH among Chinese individuals.

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research ADAM17 Variant Causes Hair Loss via Ubiquitin Ligase TRIM47 Mediated Degradation

May 2024 in “JCI insight”

In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.

research Botanical Extracts in Combination Improve Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Mutations

March 2022 in “Journal of cosmetic dermatology”

In this case study, a 6-year-old child with autosomal recessive woolly hair showed significant hair growth and sustained improvement with a 4-year combination treatment of botanical extracts, though the precise mechanisms need further research.

research Novel Small-Insertion Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis

1 citations , September 2020 in “Journal of dermatology”

This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.

research Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles

50 citations , February 2016 in “Journal of Investigative Dermatology”

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient

2 citations , December 2013 in “Journal of dermatology”

This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.