Diagnosis of epidermolysis bullosa

• 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