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A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
Author(s) -
Schepis Carmelo,
Elia Maurizio,
Siragusa Maddalena,
Barbareschi Mauro
Publication year - 1997
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1997.tb00219.x
Subject(s) - autism , medicine , epilepsy , pathology , dermatology , psychiatry
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.