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Trichothiodystrophy without photosensitivity

Biochemical, ultrastructural and DNA repair studies

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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.

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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

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Authors and Affiliations

  1. Clinica Pediatrica Università di Siena, Via Mattioli 10, I-53100, Siena, Italy

    A. Fois & P. Balestri

  2. Clinica Dermatologica Università La Sapienza, Viale Regina Elena, Rome, Italy

    S. Calvieri, M. Zampetti & S. Giustini

  3. Istituto di Genetica Biochimica e Evoluzionistica CNR, Via Abbiategrasso 297, Pavia, Italy

    M. Stefanini & P. Lagomarsini

Authors
  1. A. Fois
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  2. P. Balestri
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  3. S. Calvieri
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  4. M. Zampetti
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  5. S. Giustini
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  6. M. Stefanini
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  7. P. Lagomarsini
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Fois, A., Balestri, P., Calvieri, S. et al. Trichothiodystrophy without photosensitivity. Eur J Pediatr 147, 439–441 (1988). https://doi.org/10.1007/BF00496431

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  • DOI: https://doi.org/10.1007/BF00496431

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