Abstract |
Trichothiodystrophy comprises a heterogeneous group of autosomal recessive entities. This fact gives rise to different interrelated neuroectodermal disorders. From a structural point of view these features are the result of the low tissue sulfur content. We report a case of trichothiodystrophy initially classified as Tay syndrome that based on clinical features, complementary exams as well as on the disease evolution was labelled as PIBIDS syndrome.
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Authors | R Jiménez-Puya, J C Moreno-Giménez, F Camacho-Martínez, J Ferrando-Barbera, R Grimalt |
Journal | Actas dermo-sifiliograficas
(Actas Dermosifiliogr)
Vol. 98
Issue 3
Pg. 183-7
(Apr 2007)
ISSN: 0001-7310 [Print] Spain |
Vernacular Title | Tricotiodistrofia: síndrome PIBIDS. |
PMID | 17504703
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
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Topics |
- Aging, Premature
(genetics, metabolism, pathology)
- DNA Repair
(genetics)
- Female
- Genes, Recessive
- Growth Disorders
(genetics, metabolism, pathology)
- Hair
(chemistry)
- Hair Diseases
(genetics, metabolism, pathology)
- Humans
- Ichthyosis
(genetics, metabolism, pathology)
- Infant
- Lentigo
(genetics, metabolism, pathology)
- Neurocutaneous Syndromes
(genetics, metabolism, pathology)
- Phenotype
- Photosensitivity Disorders
(genetics, metabolism, pathology)
- Sulfur
(analysis, deficiency)
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