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

Studysummary This study found that a specific gene mutation was identified in a family with monilethrix, and treatment with 5% minoxidil liniment improved hair quality in the proband without adverse events. Our plain-language summary of this paper — not a Tressless recommendation.

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.

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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”

This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.

research Treatment of Monilethrix with Oral Minoxidil

37 citations , May 2016 in “JAAD case reports”

This abstract describes monilethrix, an autosomal dominant genodermatosis with symptoms like hair fragility and keratosis pilaris, and does not report new experimental results.

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

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

This case report describes a 6-year-old girl diagnosed with monilethrix despite no familial history and treated with a topical minoxidil trial.

research Monilethrix Treated with Minoxidil

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

In this small study, topical minoxidil 2% was associated with an increase in normal hair shaft production in patients with Monilethrix without any reported side effects.

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

Research cited in this study

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

research Treatment of Monilethrix with Oral Minoxidil

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

research Monilethrix Treated with Minoxidil

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

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

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

research A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix