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

24 / 24 results

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

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

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A genetic variant in the KRT25 gene causes tightly curled hair.

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

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research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

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A genetic mutation in the LIPH gene causes hair loss and growth defects.

research Minoxidil: Mechanisms of Action on Hair Growth

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research Minoxidil-Induced Hair Growth Is Mediated by Adenosine in Cultured Dermal Papilla Cells: Possible Involvement of Sulfonylurea Receptor 2B as a Target of Minoxidil

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A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

research A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

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Complete Defect in PA-PLA1α Secretion Function Leading to Autosomal Recessive Woolly Hair and Hypotrichosis: Insights from a Novel Compound Heterozygous LIPH Variant Study in a Chinese Pedigree

research Complete Defect in PA-PLA1α Secretion Function Leading to Autosomal Recessive Woolly Hair and Hypotrichosis: Insights from a Novel Compound Heterozygous LIPH Variant Study in a Chinese Pedigree

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

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

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

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

research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I

research Prognosis and Management of Congenital Hair Shaft Disorders Without Fragility—Part II

research Topical Minoxidil and Tretinoin Combined with an Oral Vitamin D Analog as a Treatment for Woolly Hair

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

research A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair

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 The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis

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

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

research LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling

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

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

research Minoxidil: Mechanisms of Action on Hair Growth

research Minoxidil-Induced Hair Growth Is Mediated by Adenosine in Cultured Dermal Papilla Cells: Possible Involvement of Sulfonylurea Receptor 2B as a Target of Minoxidil

research Mice With a Null Mutation of the TGFα Gene Have Abnormal Skin Architecture, Wavy Hair, and Curly Whiskers and Often Develop Corneal Inflammation

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