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The uncombable hair syndrome
Archives of Pathology & Laboratory Medicine
|August 1, 1987
Summary
Uncombable hair syndrome (UHS) is a rare genetic condition. Examination revealed a unique hair shaft defect, a longitudinal depression, confirming the UHS diagnosis in a healthy boy.
Area of Science:
- Dermatology
- Genetics
- Microscopy
Background:
- Uncombable hair syndrome (UHS) is a rare, autosomal dominant hair disorder.
- Characterized by stiff, wiry, and usually light-colored hair that cannot be combed flat.
- Typically presents in early childhood with no associated systemic abnormalities.
Observation:
- A case of UHS in a boy with no other health issues is presented.
- Clinical suspicion was confirmed by detailed hair shaft examination.
- Specialized microscopy techniques were employed for diagnosis.
Findings:
- Scanning electron microscopy (SEM) revealed a distinct hair shaft anomaly.
- The primary defect identified was a longitudinal, canalicular depression on one side of the hair shaft.
- Light microscopy of a transverse section confirmed this unique morphological alteration.
Implications:
- This case highlights the characteristic hair shaft abnormalities in uncombable hair syndrome.
- Microscopic examination, particularly SEM, is crucial for diagnosing UHS.
- Understanding the hair shaft morphology aids in differentiating UHS from other hair disorders.