Literature DB >> 3396600

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

A Fois1, P Balestri, S Calvieri, M Zampetti, S Giustini, M Stefanini, P Lagomarsini.   

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.

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Year:  1988        PMID： 3396600     DOI： 10.1007/bf00496431

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  23 in total

1.  Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder.

Authors:  C H Tay
Journal:  Arch Dermatol       Date:  1971-07

2.  Trichothiodystrophy: an electron-histochemical study of the hair shaft.

Authors:  C L Gummer; R P Dawber; V H Price
Journal:  Br J Dermatol       Date:  1984-04       Impact factor: 9.302

3.  Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder.

Authors:  P D Walker; M G Blitzer; E Shapira
Journal:  Neurology       Date:  1985-03       Impact factor: 9.910

4.  Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

Authors:  V H Price; R B Odom; W H Ward; F T Jones
Journal:  Arch Dermatol       Date:  1980-12

5.  Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome).

Authors:  J L Jorizzo; D J Atherton; R G Crounse; R S Wells
Journal:  Br J Dermatol       Date:  1982-06       Impact factor: 9.302

6.  The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

Authors:  R Happle; H Traupe; H Gröbe; G Bonsmann
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

7.  Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure.

Authors:  P A Lucky; N Kirsch; A W Lucky; D M Carter
Journal:  J Am Acad Dermatol       Date:  1984-08       Impact factor: 11.527

8.  Neurotrichosis: hair-shaft abnormalities associated with neurological diseases.

Authors:  D L Coulter; T F Beals; R J Allen
Journal:  Dev Med Child Neurol       Date:  1982-10       Impact factor: 5.449

9.  The Sabinas syndrome.

Authors:  R R Howell; A I Arbisser; D S Parsons; C I Scott; U Fraustadt; W R Collie; R N Marshall; O C Ibarra
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025

10.  Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.

Authors:  M D King; C L Gummer; J B Stephenson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318
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  2 in total

Review 1.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

2.  Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.

Authors:  Elizabeth R Heller; Sikandar G Khan; Christiane Kuschal; Deborah Tamura; John J DiGiovanna; Kenneth H Kraemer
Journal:  J Invest Dermatol       Date:  2014-10-07       Impact factor: 8.551
  2 in total

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