Inherited epidermolysis bullosa
Initial recognition, diagnosis and complication-focused care for inherited skin fragility.
Updated: 2026-09-13
Written for clinicians and medical students
This section is a teaching reference for doctors, residents and medical students. It is not patient guidance and not a substitute for clinical examination, and it must not be used for self treatment.
Recognition and confirmation
- Blistering after minor friction from birth or infancy, nail dystrophy, milia, scarring or mucosal disease suggests inherited epidermolysis bullosa. Severity ranges from localised acral blistering to multisystem disease [1].
- Urgently assess airway, feeding, hydration, infection and pain in a blistering neonate while excluding infectious, autoimmune and traumatic causes.
- Diagnosis and subtype assignment use genetic testing, supported where needed by immunomapping or transmission electron microscopy. Precise subtype predicts complications and inheritance [1].
Care priorities
- Use non-adherent dressings, gentle handling, lancing of tense blisters while retaining the roof, pain control and infection surveillance. Avoid adhesive tapes directly on skin [1,2].
- Monitor nutrition, anaemia, growth, dental disease, hand contractures, oesophageal symptoms and psychosocial burden through an experienced multidisciplinary team [1].
- Severe recessive dystrophic EB carries a high risk of aggressive cutaneous squamous cell carcinoma. New non-healing, painful or rapidly growing wounds require urgent biopsy [1].