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Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

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 membrane-bound 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.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Fois A,Balestri P,Calvieri S,Zampetti M,Giustini S,Stefanini M,Lagomarsini P

doi

10.1007/BF00496431

subject

Has Abstract

pub_date

1988-05-01 00:00:00

pages

439-41

issue

4

eissn

0340-6199

issn

1432-1076

journal_volume

147

pub_type

杂志文章

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