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.
TRICHOTHIODYSTROPHY WITHOUT PHOTOSENSITIVITY - BIOCHEMICAL, ULTRASTRUCTURAL AND DNA-REPAIR STUDIES / A., Fois; P., Balestri; Calvieri, Stefano; M., Zampetti; Giustini, Sandra; M., Stefanini; P., Lagomarsini. - In: EUROPEAN JOURNAL OF PEDIATRICS. - ISSN 0340-6199. - 147:4(1988), pp. 439-441. [10.1007/bf00496431]
TRICHOTHIODYSTROPHY WITHOUT PHOTOSENSITIVITY - BIOCHEMICAL, ULTRASTRUCTURAL AND DNA-REPAIR STUDIES
CALVIERI, Stefano;GIUSTINI, Sandra;
1988
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
