title: Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.
abstract: BACKGROUND
  Tiger tail banding under polarizing light microscopy and hair shaft abnormalities are associated with trichothiodystrophy (TTD), a rare disorder with a wide spectrum of clinical presentations.
  
  
  OBJECTIVE
  To characterize the frequency, specificity, and extent of tiger tail banding and hair shaft abnormalities in the spectrum of TTD patients.
  
  
  METHODS
  We developed a standardized procedure for microscopic hair examination and studied hairs from 14 TTD and 4 xeroderma pigmentosum (XP)-TTD patients for tiger tail banding and hair shaft abnormalities. For comparison we examined hairs from 173 control donors consisting of 15 normals, 13 XP patients, 11 family members of XP or TTD patients, 101 patients with various cornification disorders, and 33 leukodystrophy patients. Amino acid analysis performed on hair from the TTD and XP-TTD patients showed low sulfur content.
  
  
  RESULTS
  Using a rotating microscope stage, all hairs in each TTD sample showed tiger tail banding under polarized light in association with a variety of hair shaft abnormalities (trichoschisis, trichorrhexis nodosa-like defects, surface irregularities, and ribboning). None of the control hairs showed tiger tail banding, and 5 of 173 controls had weathering hair shaft abnormalities.
  
  
  CONCLUSIONS
  In patients with clinical features suggestive of TTD, tiger tail banding seen in all hairs with polarizing microscopy, in conjunction with certain hair shaft abnormalities, provides a reliable diagnostic test.
authors.affiliation: DNA Repair Section, National Cancer Institute, Bethesda, Maryland, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Liang
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Kraemer
authors.forename: Andrea
authors.initials: A
authors.lastname: Morris
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
authors.forename: Vera H
authors.initials: VH
authors.lastname: Price
authors.forename: Emory
authors.initials: E
authors.lastname: Menefee
authors.forename: John J
authors.initials: JJ
authors.lastname: DiGiovanna
mesh_terms: D003553:Cystine / Q000032:analysis; D004260:DNA Repair / Q000235:genetics; D007644:Darier Disease / Q000378:metabolism / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000378:metabolism / Q000473:pathology; D006197:Hair / Q000002:abnormalities* / Q000737:chemistry; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000378:metabolism / Q000473:pathology; D007057:Ichthyosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008859:Microscopy, Polarization; D010787:Photosensitivity Disorders / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D012680:Sensitivity and Specificity; D013455:Sulfur / Q000032:analysis; D013577:Syndrome; D014983:Xeroderma Pigmentosum / Q000473:pathology
chemical_list: D003553:Cystine; D013455:Sulfur