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Glossary Marie Unna Hereditary Hypotrichosis

rare genetic disorder causing sparse or absent hair growth

Marie Unna Hereditary Hypotrichosis (MUHH) is a rare genetic disorder characterized by abnormal hair growth, leading to sparse or absent hair on the scalp and other parts of the body. It is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is necessary for the condition to manifest.

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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”

In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.

research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless

29 citations , March 2000 in “Journal of Investigative Dermatology”

The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.

research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis

21 citations , June 2009 in “Mammalian genome”

This study describes a mouse model for Marie Unna Hereditary Hypotrichosis, identifying mutations in the hairless gene that result in sparse or absent hair and cyst-like hair follicles.

research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report

14 citations , April 2011 in “Journal of the American Academy of Dermatology”

Researchers found a gene mutation responsible for a rare hair loss condition.

research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript

14 citations , July 2010 in “Experimental Dermatology”

A new mutation in the HR gene causes hair loss in a specific family.

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

12 citations , March 2011 in “Pediatric dermatology”

This report describes a new case of Marie-Unna hereditary hypotrichosis in an 18-year-old girl, marking the first occurrence in a previously unaffected family.

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”

This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.

research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis

6 citations , January 2013 in “The Journal of Dermatology”

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

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”

This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

research Marie-unna hereditary hypotrichosis

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

This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.

research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless

4 citations , March 2000 in “Journal of Investigative Dermatology”

The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.

research Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis

2 citations , November 2011 in “Pediatric dermatology”

This correspondence addresses the diagnostic challenges in distinguishing between Marie-Unna Hereditary Hypotrichosis and Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair, reporting no new clinical findings.

Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent HRURF Variant

research Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent HRURF Variant

August 2025 in “Journal of Cosmetic Dermatology”

This study reported significant short-term scalp hair regrowth and increased density in a 4-year-old with Marie Unna hereditary hypotrichosis following topical 5% minoxidil treatment, suggesting its potential benefit in this condition.

research Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report

May 2018 in “European Journal of Dermatology”

The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.

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

November 2011 in “Pediatric dermatology”

This case report and literature review discusses Marie-Unna hereditary hypotrichosis and presents no new clinical results.

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”

This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.

research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].

5 citations , November 1979 in “PubMed”

This study reported that 19 out of 29 examined individuals from a family spanning seven generations exhibited the distinctive symptoms of hypotrichosis congenita hereditaria Marie Unna type.

research Molecular Basis of Hereditary Hair Diseases

July 2023 in “The Keio Journal of Medicine”

In this review, researchers highlighted the prevalence of hereditary hair diseases in the Japanese population, emphasizing the significant impact of LIPH gene variants on autosomal recessive woolly hair and the importance of continued research to better diagnose and manage these disorders.

research Clinical and molecular genetic studies in hereditary hair loss

August 2021

This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.

research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA

3 citations , February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine”

This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.

research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity

January 2025 in “Clinical Cosmetic and Investigational Dermatology”

This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.

research Two females with hair loss

July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft”

This source reports findings from a case study detailing hair loss in two female patients, published in the JDDG: Journal der Deutschen Dermatologischen Gesellschaft, emphasizing that specific diagnostic outcomes or treatment results are not included in the summary.

research Odd-Looking Hair and Progressive Alopecia in Mother and Son

May 2014 in “JAMA Dermatology”

Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.

research Polarized microscopy in genetic hair disorders: case series

January 2025

This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.

research Biology and Genetics of Hair

89 citations , September 2010 in “Annual Review of Genomics and Human Genetics”

This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.

research The genetics of hair shaft disorders

59 citations , June 2008 in “Journal of The American Academy of Dermatology”

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.

research Office Diagnosis of Hair Shaft Defects

33 citations , March 2006 in “Seminars in cutaneous medicine and surgery”

This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.

research Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern

30 citations , May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft”

This review proposes a classification system for childhood hair loss based on clinical appearance, age of onset, and associated symptoms, but reports no new clinical results.

research The Stem Cell Quiescence and Niche Signaling is Disturbed in the Hair Follicle of the Hairpoor Mouse, an MUHH Model Mouse.

October 2021 in “Research Square (Research Square)”

This study found that in hairpoor mice, disruptions in hair follicle stem cell quiescence and signaling pathways lead to disturbed hair cycles, which may help explain alopecia development in Marie-Unna Hypotrichosis patients.

research The stem cell quiescence and niche signaling is disturbed in the hair follicle of the hairpoor mouse, an MUHH model mouse

2 citations , May 2022 in “Stem cell research & therapy”

This study found that hair follicle stem cells in the hairpoor mouse, a model for Marie-Unna hypotrichosis, lose their quiescent state, leading to a disordered hair cycle and contributing to alopecia.