Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity

January 2025 in “ Clinical Cosmetic and Investigational Dermatology ”

Ahmed H. Nouh, Fatma Elgendy, Fatma Gobran, Maryna Zhuravlova

female pattern hair loss alopecia Marie Unna hereditary hypotrichosis MUHH HRURF gene genotype–phenotype correlations hair loss patterns dermoscopic findings genetic testing hair development hair cycling female pattern baldness genetic hair loss

TLDR Genetic testing is crucial for diagnosing rare hair loss disorders.

This study reports the first case series of Marie Unna hereditary hypotrichosis (MUHH) in Egypt, involving two unrelated families. It identifies two heterozygous pathogenic variants in the HRURF gene, contributing to the understanding of genotype–phenotype correlations in this rare disorder. The research highlights the clinical variability of MUHH, with unique hair loss patterns and dermoscopic findings. It underscores the importance of genetic testing for diagnosis and calls for further functional studies to explore the HRURF gene's role in hair development and cycling, which may lead to effective treatments.

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Research cited in this study

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research Marie-Unna Hereditary Hypotrichosis

4 citations, January 2014 in “International Journal of Trichology”

A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.

A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

6 citations, May 2012 in “Archives of Dermatological Research”

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

research Marie-Unna Hereditary Hypotrichosis: Case Report and Review of the Literature

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An 18-year-old girl was diagnosed with a rare hereditary hair loss condition, despite no family history.

research Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation

11 citations, September 2010 in “American Journal of Medical Genetics - Part A”

A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.

Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

181 citations, January 2009 in “Nature Genetics”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

research A Distinct Gene Close to the Hairless Locus on Chromosome 8p Underlies Hereditary Marie Unna Type Hypotrichosis in a German Family

36 citations, October 2000 in “British Journal of Dermatology”

A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.

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