Gene Detection in a Family With Monilethrix and Observation of the Treatment Effect With 5% Topical Minoxidil

September 2022 in “ Research Square (Research Square) ”

Qingli Shen, Zhong-Hua Fu, Pengqiang Du, Jianbo Wang

monilethrix 5% topical minoxidil KRT86 gene heterozygous missense variant c.1204G>A p.E402K mutation hair density hair shaft quality autosomal dominant minoxidil

TLDR 5% topical minoxidil improves hair density and quality in monilethrix patients.

The study identified the heterozygous missense variant c.1204G>A (p.E402K) in the KRT86 gene as the causative mutation in a family with monilethrix, which was not present in the mother or 100 unrelated healthy controls. The proband treated with 5% topical minoxidil showed significant improvement in hair density and hair shaft quality after six months, with no adverse events. The p.E402K mutation is suggested to be a "hotspot" for autosomal dominant monilethrix in China, and 5% topical minoxidil is confirmed to be a safe and effective treatment.

View this study on researchsquare.com →

Discuss this study in the Community →

Research cited in this study

8 / 8 results

research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families

5 citations , February 2022 in “Molecular genetics & genomic medicine”

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

research Treatment of Monilethrix with Oral Minoxidil

37 citations , May 2016 in “JAAD case reports”

Oral minoxidil shows promise in treating monilethrix-related hair loss.

research Monilethrix: A Typical Case Report with Microscopic and Dermatoscopic Findings

20 citations , February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia”

A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.

research Monilethrix Treated with Minoxidil

23 citations , January 2011 in “International Journal of Immunopathology and Pharmacology”

Minoxidil 2% effectively treats Monilethrix without side effects.

research A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix

79 citations , March 2005 in “Journal of Medical Genetics”

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

32 citations , January 2000 in “Human Heredity”

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

34 citations , November 1998 in “Journal of Investigative Dermatology”

research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

100 citations , November 1997 in “Human Genetics”

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

Similar Research

5 / 412 results

research Gene Detection in a Family With Monilethrix and Treatment With 5% Topical Minoxidil

2 citations , November 2022 in “Skin research and technology”

5% topical minoxidil improves hair density and quality in monilethrix patients.

research Genetic Hair Disorders: A Review

26 citations , July 2019 in “Dermatology and Therapy”

The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.

research Hair Disorders

November 2019 in “Harper's Textbook of Pediatric Dermatology”

Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.

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 Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82

9 citations , February 2022 in “Nature communications”

Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.