Related Experiment Videos
Golf tee hairs in Netherton disease
D A de Berker1, D G Paige, D J Ferguson
1Department of Dermatology, Churchill Hospital, Oxford, United Kingdom.
Pediatric Dermatology
|March 1, 1995
Summary
Netherton disease diagnosis can be challenging. This study identifies a subtle "golf tee" hair morphology, distinct from typical trichorrhexis invaginata, aiding in Netherton disease confirmation.
Area of Science:
- Dermatology
- Medical Genetics
- Histopathology
Background:
- Netherton disease is a rare autosomal recessive disorder.
- It is characterized by the clinical triad of ichthyosis, atopic dermatitis, and hair shaft abnormalities.
- The hallmark hair shaft abnormality is trichorrhexis invaginata.
Observation:
- A case of Netherton disease presented with hairs lacking typical trichorrhexis invaginata.
- Instead, some hairs exhibited a distinct
- golf tee
- morphology.
- This finding was subtle under light microscopy but clarified by scanning electron microscopy.
Findings:
- The
- golf tee
- morphology represents the proximal portion of the invaginated node in trichorrhexis invaginata.
- This abnormality can be present even when classic features are absent.
- Scanning electron microscopy reveals the 3D structure of this subtle hair anomaly.
Implications:
- Recognition of the
- golf tee
- hair sign can facilitate Netherton disease diagnosis.
- This finding is crucial when classic trichorrhexis invaginata is not observed.
- Improved diagnostic accuracy aids in patient management and genetic counseling.