European Journal of Pediatrics

, Volume 147, Issue 4, pp 439–441 | Cite as

Trichothiodystrophy without photosensitivity

Biochemical, ultrastructural and DNA repair studies
  • A. Fois
  • P. Balestri
  • S. Calvieri
  • M. Zampetti
  • S. Giustini
  • M. Stefanini
  • P. Lagomarsini
Case Reports


A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membranebound vacuoles filled with granular-filamentous material. These findings could indicate a disturbance in the protein metabolism in tissues of ectodermal origin, explaining also the functional abnormalities of the central nervous system in TTD patients. The results of cellular DNA repair studies after UV irradiation in cultured fibroblasts showed normal levels of unscheduled DNA synthesis. This finding indicates that UV hypersensitivity is not constantly present in TTD.

Key words

Trichothiodystrophy Photosensitivity DNA repair studies Ultramicroscopic skin findings 







xeroderma pigmentosum


electron microscopy


unscheduled DNA synthesis


growth hormone


follicle stimulating hormone


luteinizing hormone


luteotropic releasing hormone


thyroid-stimulating hormone


thyreotropic releasing hormone


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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • A. Fois
    • 1
  • P. Balestri
    • 1
  • S. Calvieri
    • 2
  • M. Zampetti
    • 2
  • S. Giustini
    • 2
  • M. Stefanini
    • 3
  • P. Lagomarsini
    • 3
  1. 1.Clinica Pediatrica Università di SienaSienaItaly
  2. 2.Clinica Dermatologica Università La SapienzaRomeItaly
  3. 3.Istituto di Genetica Biochimica e Evoluzionistica CNRPaviaItaly

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