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- Thorough clinical investigation of the patient: skin, mucous membranes, and if apparent, wounds.
- Manifestations of EB: blisters, erosions, scars, milia, mucosal fragility, skin fragility, intolerance of plasters, nail dystrophy, defects of tooth enamel, increased karies, palmoplantar keratoses, alopecia, pigment marks, pylorus atresia, oesophageal stenosis, muscular dystrophy
- Family history: blistering skin disorders known in the family? Consanguinity in the family?
- Laboratory investigations: immunofluorescence mapping and mutation analysis
© 2006 Netzwerk Epidermolysis bullosa