Uncombable hair syndrome

Uncombable hair syndrome
Hair of a person with uncombable hair syndrome
SpecialtyMedical genetics Edit this on Wikidata
Usual onsetSymptoms would be apparent between 3 months – 12 years[1]
DurationLifelong or until puberty
Differential diagnosisWoolly hair, pili torti, pili annulati, trichorrhexis invaginata, trichorrhexis nodosa[2]
FrequencyRare,[1] precise prevalence unknown[3]

Uncombable hair syndrome (UHS) is a rare structural anomaly of the hair with a variable degree of effect. It is characterized by hair that is silvery, dry, frizzy, wiry, and impossible to comb.[4] It was first reported in the early 20th century.[5] It typically becomes apparent between the ages of 3 months and 12 years.[6] UHS has several names, including pili trianguli et canaliculi (Latin), cheveux incoiffables (French), and "spun-glass hair".[7] This disorder is believed to be autosomal recessive in most instances, but there are a few documented cases where multiple family members display the trait in an autosomal dominant fashion. Based on the current scientific studies related to the disorder, the three genes that have been causally linked to UHS are PADI3, TGM3, and TCHH. These genes encode proteins important for hair shaft formation.[8] Clinical symptoms of the disorder arise between 3 months and 12 years of age. The quantity of hair on the head does not change, but hair starts to grow more slowly and becomes increasingly "uncombable". To be clinically apparent, 50% of all scalp hair shafts must be affected by UHS.[7][9] This syndrome only affects the hair shaft of the scalp and does not influence hair growth in terms of quantity, textural feel, or appearance on the rest of the body.[7]

  1. ^ a b "Uncombable hair syndrome". rarediseases.info.nih.gov. United States: Genetic and Rare Diseases Information Center, National Institutes of Health.
  2. ^ Ramot, Y.; Zlotogorski, A.; Molho-Pessach, V. (April 2019). "Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease". Skin Appendage Disorders. 5 (3): 162–164. doi:10.1159/000493649. PMC 6489048. PMID 31049339.
  3. ^ "Uncombable hair syndrome". MedlinePlus Genetics.
  4. ^ Rosen, Meghan (8 October 2022). "Why some hair can't be tamed". Science News (Paper). Vol. 202, no. 7. p. 5.
  5. ^ Hicks J, Metry DW, Barrish J, Levy M (2001). "Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis". Ultrastructural Pathology. 25 (2): 99–103. doi:10.1080/01913120117514. PMID 11407534. S2CID 25846825.
  6. ^ Cite error: The named reference parents was invoked but never defined (see the help page).
  7. ^ a b c Cite error: The named reference Ü. Basmanav et al 2016 was invoked but never defined (see the help page).
  8. ^ "Uncombable hair syndrome". Definitions. 2020. doi:10.32388/13tda0. S2CID 45838530.
  9. ^ Cite error: The named reference Trüeb 2003 was invoked but never defined (see the help page).