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.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Aging, Premature / genetics
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Aging, Premature / metabolism
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Aging, Premature / pathology
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DNA Repair / genetics
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Female
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Genes, Recessive
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Growth Disorders / genetics
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Growth Disorders / metabolism
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Growth Disorders / pathology
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Hair / chemistry
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Hair Diseases / genetics
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Hair Diseases / metabolism
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Hair Diseases / pathology*
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Humans
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Ichthyosis / genetics
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Ichthyosis / metabolism
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Ichthyosis / pathology
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Infant
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Lentigo / genetics
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Lentigo / metabolism
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Lentigo / pathology
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Neurocutaneous Syndromes / genetics
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Neurocutaneous Syndromes / metabolism
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Neurocutaneous Syndromes / pathology*
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Phenotype
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Photosensitivity Disorders / genetics
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Photosensitivity Disorders / metabolism
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Photosensitivity Disorders / pathology
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Sulfur / analysis
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Sulfur / deficiency*