TLDR A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
The document reported a case of trichothiodystrophy in a patient who also exhibited autism, mental retardation, and seizures. The diagnosis was confirmed by identifying brittle hair with a significant reduction in sulfur-rich amino acids and specific microscopic features, such as "tiger tail" patterns under polarizing microscopy and trichoschisis under scanning electron microscopy. The most notable hair alterations were found in the frontal and occipital regions, with only microscopic changes observed in the occipital hair. This case was considered an unusual manifestation of trichothiodystrophy.
26 citations
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January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
144 citations
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May 1990 in “Journal of the American Academy of Dermatology” 175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” TTD hair brittleness is caused by multiple structural abnormalities.
44 citations
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January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
5 citations
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November 2011 in “Expert Review of Dermatology” The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
January 2017 in “Springer eBooks” The document explains various skin conditions and their treatments.
