European Journal of Pediatrics

, Volume 147, Issue 4, pp 439–441

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

DOI: 10.1007/BF00496431

Cite this article as:
Fois, A., Balestri, P., Calvieri, S. et al. Eur J Pediatr (1988) 147: 439. doi:10.1007/BF00496431

Abstract

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

TrichothiodystrophyPhotosensitivityDNA repair studiesUltramicroscopic skin findings

Abbreviations

TTD

trichothiodystrophy

UV

ultraviolet

XP

xeroderma pigmentosum

EM

electron microscopy

UDS

unscheduled DNA synthesis

GH

growth hormone

FSH

follicle stimulating hormone

LH

luteinizing hormone

LH-RH

luteotropic releasing hormone

TSH

thyroid-stimulating hormone

TRH

thyreotropic releasing hormone

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