A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
Article first published online: 28 JUN 2008
Volume 14, Issue 2, pages 125–128, March 1997
How to Cite
Schepis, C., Elia, M., Siragusa, M. and Barbareschi, M. (1997), A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation. Pediatric Dermatology, 14: 125–128. doi: 10.1111/j.1525-1470.1997.tb00219.x
- Issue published online: 28 JUN 2008
- Article first published online: 28 JUN 2008
Abstract: 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.