Monilethrix: Case Report of a Rare Disease

January 2015 in “ Nasza Dermatologia Online ”

Tasleem Arif, Imran Majid, Mir Laieq Ishtiyaq Haji, Nuzhat Samoon Nuzhat Samoon

monilethrix genetic hair disorder hair fragility dystrophic alopecia light microscopy hair shaft nodes hair shaft internodes autosomal dominant topical minoxidil Rogaine

Studysummary This case report describes an eight-year-old Kashmiri boy diagnosed with monilethrix, a rare genetic hair disorder, characterized by a beaded appearance and fragility of the hair shaft.

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research A Case of Monilethrix Caused by Novel Compound Heterozygous Mutations in the Desmoglein 4 (DSG4) Gene

26 citations , April 2011 in “British Journal of Dermatology”

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

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.

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

research Recurrent Missense Mutations in the Hair Keratin Gene HHb6 in Monilethrix

21 citations , March 2003 in “Clinical and Experimental Dermatology”

This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.

research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix

10 citations , January 2003 in “Dermatology”

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.