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

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)125-128
Number of pages4
JournalPediatric Dermatology
Volume14
Issue number2
Publication statusPublished - Mar 1997

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Trichothiodystrophy Syndromes
Autistic Disorder
Intellectual Disability
Hair
Seizures
Tigers
Sulfur Amino Acids
Electron Scanning Microscopy
Tail
Microscopy

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

Cite this

A new case of trichothiodystrophy associated with autism, seizures, and mental retardation. / Schepis, Carmelo; Elia, Maurizio; Siragusa, Maddalena; Barbareschi, Mauro.

In: Pediatric Dermatology, Vol. 14, No. 2, 03.1997, p. 125-128.

Research output: Contribution to journalArticle

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