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

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

Masashi Akiyama

autosomal recessive woolly hair hypotrichosis LPAR6 LIPH KRT25 C3ORF52 LIPH-LPA-LPAR6 signaling topical minoxidil minoxidil Rogaine

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

Isolated autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare genetic condition characterized by tightly curled, sparse hair from birth or early infancy. It is caused by mutations in genes such as LPAR6, LIPH, KRT25, and C3ORF52, with the prevalence of these mutations varying by ethnicity and region. For instance, LIPH mutations are common in Japanese, Pakistani, and certain Russian populations. The condition results from disrupted LIPH-LPA-LPAR6 signaling, leading to underdeveloped hair. While no definitive treatment exists, a recent study suggests that topical minoxidil may be promising for ARWH due to LIPH mutations.

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Research cited in this study

research Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants

research Minoxidil And Its Use In Hair Disorders: A Review

research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

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research Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

research Clinical Effects of Non-Ablative and Ablative Fractional Lasers on Various Hair Disorders: A Case Series of 17 Patients

research Prevalent Founder Mutation c.736T>A of LIPH in Autosomal Recessive Woolly Hair of Japanese Leads to Variable Severity of Hypotrichosis in Adulthood

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research Identification of 736T>A Mutation of Lipase H in Japanese Siblings with Autosomal Recessive Woolly Hair

research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

research Adenosine Stimulates Fibroblast Growth Factor-7 Gene Expression Via Adenosine A2b Receptor Signaling in Dermal Papilla Cells

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