Heterogeneity of Trichothiodystrophy: Preliminary Biochemical Results

  • D. Van Neste
  • M. Gillespie
  • R. Marshall


The term trichothiodystrophy (TTD) was coined to establish a link between the decrease of sulfur-containing amino acids and hair dysplasia [8]. Many different clinical syndromes are associated with TTD and they have been reviewed on several occasions [3–6, 8].


Amino Acid Composition Amino Acid Analysis Human Hair Unaffected Family Member Sulfur Protein 
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  1. 1.
    Baden HP, Jackson CE, Weiss L, Jimbow K, Lee L, Kubilus J, Gold RJM (1976) The physico- chemical properties of hair in the BEDS syndrome. Am J Hum Genet 28:514–521PubMedGoogle Scholar
  2. 2.
    Gillespie JM, Marshall RC (1983) A comparison of the proteins of normal and triehothiodys- trophic human hair. J Invest Dermatol 80:195–202PubMedCrossRefGoogle Scholar
  3. 3.
    Goldsmith LA (1979) Molekulärmechanismen der genetisch bedingten Haarkrankheiten. In: Orfanos CE (ed) Haar und Haarkrankheiten. Fischer, Stuttgart, pp 343–369Google Scholar
  4. 4.
    Happle R, Traupe H, Grobe H, Bonsmann G (1984) The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 141:147–152PubMedCrossRefGoogle Scholar
  5. 5.
    Jorizzo JL, Atherton DJ, Crounse RG, Wells RS (1982) Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol 106:705–710PubMedCrossRefGoogle Scholar
  6. 6.
    Lucky PA, Kirsch N, Lucky AW, Carter DM (1984) Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure. J Am Acad Dermatol 11:340–346PubMedCrossRefGoogle Scholar
  7. 7.
    Pollitt RJ, Stonier PD (1971) Proteins of normal hair and of cystine-defícient hair from mentally retarded siblings. Biochem J 122:433–444PubMedGoogle Scholar
  8. 8.
    Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 116:1375–1384PubMedCrossRefGoogle Scholar
  9. 9.
    Van Neste D, Boré P (1983) Trichothiodystrophie: une étude morphologique et biochimique. Ann Dermatol Vénéréol 110:409–417PubMedGoogle Scholar
  10. 10.
    Van Neste D, Thomas P, Desmons F (1980) Trichoschisis, photosensibilité, retard staturo- pondéral, nouveau syndrome congénital. Ann Dermatol Vénéréol 107:718Google Scholar
  11. 11.
    Van Neste D, Boré P, Thomas P, Lachapelle JM (1982) Trichoschisis, light sensitivity and growth retardation. In: XVI Congressus Internationalis Dermatologiae, 23–28 May 1972, TokyoGoogle Scholar
  12. 12.
    Van Neste D, Caulier B, Thomas P, Vasseur F (1985) “Pibids” Tay’s syndrome and xeroderma pigmentosum. J Am Acad Dermatol 12:372–373PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1987

Authors and Affiliations

  • D. Van Neste
    • 1
  • M. Gillespie
    • 2
  • R. Marshall
    • 2
  1. 1.Unit for Occupational and Environmental DermatologyLouvain UniversityBrusselsBelgium
  2. 2.Division of Protien ChemistryCSIROParkvilleAustralia

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