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A new case of trichothiodystrophy associated with autism, seizures, and mental retardation

A new case of trichothiodystrophy associated with autism, seizures, and mental retardation

Pediatric Dermatology 14(2): 125-128

We report a patient with trichothiodystrophy associated with autism, mental retardation, and seizures. The diagnosis was based on the presence of brittle hair, with a marked decrease in sulfur-rich amino acid content, and characteristic features such as "tiger tail" under polarizing microscopy and trichoschisis under scanning electron microscopy. Macroscopic alterations were mostly observed in the frontal and occipital hair, with only microscopic abnormalities in the occipital hair. We consider this an unusual expression of this disease.

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Accession: 045079272

Download citation: RISBibTeXText

PMID: 9144699

DOI: 10.1111/j.1525-1470.1997.tb00219.x

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