Common Genetic Hair Shaft Abnormalities May Be Visualized by Light and Electron Microscope

January 2019 in “ Global Dermatology ”

Saad R Abed

genetic hair shaft abnormalities light microscope electron microscope atopy cornification monilethrix autosomal dominant disorder K83 Desmoglein bamboo defects

Studysummary This review discusses the genetic disorder, monilethrix, characterized by fragile, brittle hair and its inheritance patterns, and reports no new clinical results.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

The document discussed genetic hair shaft abnormalities that could be observed using light and electron microscopes. It highlighted conditions such as atopy, where hair breakage occurred due to defective cornification, and monilethrix, an autosomal dominant disorder characterized by fragile, brittle hair with elliptical nodes and constrictions. While scalp hair in adults tended to improve, bamboo defects in eyebrow and body hair could persist. Mutations in genes encoding K83 and Desmoglein were identified, with the scalp usually being the primary area affected, though more extensive cases could involve eyebrows, eyelashes, and nails.

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research Trichoscopy in Genetic Hair Shaft Abnormalities

74 citations , July 2008 in “Journal of Dermatological Case Reports”

This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.

research Hair Shaft Abnormalities: Clues to Diagnosis and Treatment

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research Scalp Hair Characteristics in the Newborn Infant

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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.

research Clinical Relevance of Hair Microscopy in Alopecia

15 citations , July 2002 in “Clinical and Experimental Dermatology”

This review discusses the role of hair microscopy in diagnosing alopecia, stating that while it excludes diagnoses related to hair breakage, it only confirms nonspecific short anagen in alopecia cases.

research Monilethrix: Rare Syndrome of Structural Hair Abnormalities

4 citations , November 1999 in “PubMed”

This article presents five family cases of monilethrix and reports that neither vitamins nor desquamative ointments are effective treatments, although symptoms may spontaneously regress over time.