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Did you mean Localized Autosomal Recessive Hypotrichosis?

Glossary Localized Autosomal Recessive Hypotrichosis

genetic condition causing sparse or absent hair in specific areas

Localized Autosomal Recessive Hypotrichosis is a genetic condition characterized by sparse or absent hair in specific areas of the body. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to exhibit the condition.

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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 Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

55 citations , November 2018 in “American journal of human genetics”

This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.

research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

50 citations , February 2016 in “Journal of Investigative Dermatology”

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient

2 citations , December 2013 in “Journal of dermatology”

This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.

research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family

1 citations , August 2011 in “Dermatology Reports”

This case report describes a new family with autosomal recessive hypotrichosis simplex with woolly hair, suggesting the disorder may be underreported due to misdiagnosis.

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