Case Reports

European Journal of Pediatrics

, Volume 147, Issue 4, pp 439-441

Trichothiodystrophy without photosensitivity

Biochemical, ultrastructural and DNA repair studies
  • A. FoisAffiliated withClinica Pediatrica Università di Siena
  • , P. BalestriAffiliated withClinica Pediatrica Università di Siena
  • , S. CalvieriAffiliated withClinica Dermatologica Università La Sapienza
  • , M. ZampettiAffiliated withClinica Dermatologica Università La Sapienza
  • , S. GiustiniAffiliated withClinica Dermatologica Università La Sapienza
  • , M. StefaniniAffiliated withIstituto di Genetica Biochimica e Evoluzionistica CNR
  • , P. LagomarsiniAffiliated withIstituto di Genetica Biochimica e Evoluzionistica CNR

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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

Trichothiodystrophy Photosensitivity DNA repair studies Ultramicroscopic skin findings