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Dystrophic epidermolysis bullosa inversa: a case report
G F Altomare1, M Polenghi, P D Pigatto
12nd Department of Dermatology, University of Milan, Italy.
Summary
Recessive dystrophic epidermolysis bullosa (RDEB) inverse form presents with blistering, mucosal issues, and nail dystrophy. Phenytoin treatment showed significant improvement in skin manifestations for a 41-year-old patient.
Area of Science:
- Dermatology
- Genetics
- Rare Diseases
Background:
- Inverse form of recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis.
- Characterized by chronic blistering, improvement in adulthood, flexural lesions, mucosal and nail involvement.
- Hallopeau-Siemens form is a severe subtype of RDEB.