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

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

5 citations , October 2020 in “JAMA Dermatology”

Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.

research Minoxidil And Its Use In Hair Disorders: A Review

117 citations , August 2019 in “Drug Design Development and Therapy”

Minoxidil effectively treats hair loss, but use cautiously and monitor side effects.

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9 citations , February 2018 in “The Journal of Dermatology”

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

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12 citations , December 2016 in “British journal of dermatology/British journal of dermatology, Supplement”

Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.

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

14 citations , June 2016 in “Pediatric Dermatology”

Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.

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

33 citations , June 2016 in “Pediatric Dermatology”

Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.

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

3 citations , February 2016 in “Dermatologic Therapy”

Using minoxidil and tretinoin on the skin, along with oral vitamin D, improved hair thickness and density in two girls with woolly hair.

research Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations

7 citations , July 2015 in “British Journal of Dermatology”

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

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15 citations , February 2014 in “PloS one”

LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.

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

46 citations , March 2013 in “Journal of Cosmetic and Laser Therapy”

Non-ablative and ablative fractional lasers helped hair growth in some cases without major side effects, but didn't work for all hair disorders.

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

12 citations , March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.

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

66 citations , June 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

Adenosine may promote hair growth by increasing FGF-7 levels in dermal papilla cells.

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

194 citations , November 2006 in “Science”

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

research Minoxidil: Mechanisms of Action on Hair Growth

397 citations , February 2004 in “British Journal of Dermatology”

Minoxidil boosts hair growth by opening potassium channels and increasing cell activity.

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83 citations , December 2001 in “Journal of Investigative Dermatology”

Minoxidil boosts hair growth by targeting adenosine and possibly sulfonylurea receptor 2B.