Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period

November 2013 in “ Pediatric and Developmental Pathology ”

Lei Shao, Brandon Newell

loose anagen hair syndrome uncombable hair syndrome Netherton syndrome Menkes syndrome trichothiodystrophy trichorrhexis nodosa pili torti light microscopic hair examination

Studysummary This retrospective review of hair samples from pediatric patients indicated that microscopic hair examination might be a useful first-line investigation for diagnosing various genetic conditions. Our plain-language summary of this paper — not a Tressless recommendation.

In the retrospective review of 119 pediatric cases over a 10-year period, 63 (53%) patients showed morphologic changes in hair samples under light microscopy. Of these, 37 (31%) were diagnosed with specific genetic hair conditions: 25 with loose anagen hair syndrome, 6 with uncombable hair syndrome, 2 with Netherton syndrome, 3 with Menkes syndrome, and 1 with trichothiodystrophy. The rest had nonspecific or nondiagnostic changes such as trichorrhexis nodosa, presence of loose anagen hairs, and pili torti. The study demonstrated the utility of light microscopic hair examination as a noninvasive diagnostic tool for identifying various pediatric hair disorders.

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research Practical Guidelines for Evaluation of Loose Anagen Hair Syndrome

46 citations , October 2009 in “Archives of Dermatology”

This study found that loose anagen hair syndrome is a common form of alopecia in young girls, typically presenting with thin, sparse hair and usually confirmed by a hair-pull test.

research Trichothiodystrophy And Fragile Hair: The Distinction Between Diagnostic Signs And Diagnostic Labels In Childhood Hair Disease

17 citations , September 2009 in “British Journal of Dermatology”

This study suggests that clinically apparent fragile hair in children is rarely linked to trichothiodystrophy, and the tiger-tail pattern is not wholly specific to this diagnosis.

research Structural and Molecular Hair Abnormalities in Trichothiodystrophy

71 citations , May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

In this study, researchers found that trichothiodystrophy hair brittleness is linked to abnormalities in sulfur content and structural organization, making it prone to breakage.

research Spink5-Deficient Mice Mimic Netherton Syndrome Through Degradation of Desmoglein 1 by Epidermal Protease Hyperactivity

372 citations , December 2004 in “Nature Genetics”

research Is Loose Anagen Hair Syndrome a Keratin Disorder?

84 citations , April 2002 in “Archives of Dermatology”

This study found that a keratin mutation may cause diffuse partial woolly hair associated with loose anagen hair syndrome in some families, but other genetic factors could play a role in different cases.

research Trichothiodystrophy: A Study on Sulfur-Deficient Brittle Hair and Associated Symptoms

175 citations , December 1980 in “Archives of Dermatology”

In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.