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Keratin expression in epidermolysis bullosa simplex (Dowling-Meara)
M J Tidman1, R A Eady, I M Leigh
1Laboratory of Applied Dermatopathology, Guy's Hospital, London, UK.
Acta Dermato-Venereologica
|January 1, 1988
Summary
Dowling-Meara epidermolysis bullosa simplex (EBS) shows normal keratin synthesis. Tonofilament clumping in this skin blistering condition may result from post-synthetic keratin modification, not altered gene expression.
Area of Science:
- Dermatology
- Cell Biology
- Molecular Biology
Background:
- Epidermolysis bullosa simplex (EBS), Dowling-Meara variant, exhibits keratin tonofilament clumping.
- This microscopic finding suggests a potential abnormality in the keratin cytoskeleton.
- Investigating keratin expression is crucial for understanding blister formation in EBS.
Purpose of the Study:
- To investigate keratin expression in the Dowling-Meara variant of epidermolysis bullosa simplex.
- To determine if altered keratin synthesis underlies the observed tonofilament clumping.
Main Methods:
- Immunoperoxidase staining of perilesional skin from 5 affected subjects.
- Utilized a panel of antikeratin monoclonal antibodies.
- Examined keratin expression in basal, suprabasal, and simple epithelia compartments.
Main Results:
- Normal keratin labeling was observed in basal and suprabasal epidermal compartments.
- Keratin 19, found in simple epithelia, showed normal expression.
- A keratin typically present in hyperproliferative states was notably absent.
Conclusions:
- Keratin synthesis appears normal in Dowling-Meara EBS.
- The observed tonofilament clumping may stem from post-synthetic modifications of keratin molecules.
- This suggests a post-translational defect rather than a primary keratin gene expression issue.