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

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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

44 citations , January 2005 in “Dermatology”

This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.

research Scalp Hair Characteristics in the Newborn Infant

46 citations , December 2003 in “Advances in neonatal care”

This article reviews fetal scalp hair formation and related disorders but reports no new research results.

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.