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Epidermolysis bullosa dystrophica inversa in a child
L Bruckner-Tuderman1, M Pfaltz, U W Schnyder
1Department of Dermatology, University Hospital, Zürich, Switzerland.
Insights
Dystrophic epidermolysis bullosa inversa presents with skin blistering and scarring, notably sparing hands and feet. A collagen VII aggregation defect may cause this rare blistering skin disorder.
Area of Science:
- Dermatology
- Genetics
- Molecular Biology
Background:
- Dystrophic epidermolysis bullosa (DEB) is a group of rare genetic blistering skin disorders.
- DEB is characterized by skin fragility, leading to blisters and erosions upon minor trauma.
- The 'inversa' subtype typically affects skin folds and flexural areas.
Observation:
- A 4-year-old child presented with clinical features of DEB inversa, including blistering, erosions, scarring, and milia.
- Affected areas included the trunk (axillary/inguinal folds), neck, sacral area, and proximal extremities.
- Hands, feet, and nails were notably spared, showing only mild nail dystrophy.
Findings:
- Ultrastructural analysis revealed dermolytic blistering, indicating separation within the dermis.
- Anchoring fibrils, crucial for dermal-epidermal adhesion, were absent or rudimentary.
- Indirect immunofluorescence confirmed the presence of Collagen VII, the primary structural component of anchoring fibrils.
Implications:
- The findings suggest a potential defect in the supramolecular aggregation of Collagen VII.
- This aggregation defect may lead to the formation of unstable or absent anchoring fibrils.
- This points to a specific molecular mechanism underlying this subtype of dystrophic epidermolysis bullosa.
Abstract:
A 4-year-old child with dystrophic epidermolysis bullosa inversa is described. Clinical features were blistering of the skin, erosions, scarring and milia formation. The areas involved included the trunk, with preference for the axillary and inguinal folds, the neck and sacral area, and proximal extremities. Notably, the hands and feet were completely spared, with only mild nail dystrophy. Ultrastructural analysis revealed dermolytic blistering and absent or rudimentary anchoring fibrils. Collagen VII, the main structural protein of these fibrils, was present in the skin, as shown by indirect immunofluorescence. These findings suggest that a mutation that prevents appropriate supramolecular aggregation of collagen VII into anchoring fibrils may underlie this subtype of dystrophic epidermolysis bullosa in some patients.