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Trichothiodystrophy: ultrastructural studies of two patients
S Calvieri1, A Rossi, B Amorosi
1Department of Dermatology, University of Rome La Sapienza, Italy.
Pediatric Dermatology
|June 1, 1993
Summary
Trichothiodystrophy (TTD) in two girls revealed characteristic hair abnormalities and reduced cystine levels. Skin biopsies showed unique cellular changes, suggesting a keratin synthesis disorder in TTD patients.
Area of Science:
- Dermatology
- Genetics
- Biochemistry
Background:
- Trichothiodystrophy (TTD) is a rare genetic disorder characterized by brittle hair with reduced sulfur content.
- Previous studies indicate TTD affects multiple organs, including skin and hair.
Observation:
- Two pediatric patients, aged 18 months and 8 years, presented with TTD.
- Hair examination revealed characteristic bright and dark bands under polarized light.
- Amino acid analysis showed significantly reduced cystine levels in the hair of both patients.
Findings:
- Both patients exhibited distinct skin lesions: diffuse follicular keratosis and ichthyosiform dermatitis.
- Electron microscopy of skin biopsies revealed perinuclear vacuoles in keratinocytes and abnormal tonofilament bundles.
- These ultrastructural findings suggest a generalized defect in sulfur-containing proteins, impacting keratin synthesis.
Implications:
- The observed skin and hair abnormalities in TTD patients point to a potential disturbance in keratin synthesis.
- Ultrastructural skin findings may serve as a diagnostic marker for ichthyotic skin in TTD.
- Further research into sulfur-containing protein abnormalities in TTD is warranted.