Inherited epidermolysis bullosa

The Royal Children's Hospital (RCH) Melbourne, 2020

Epidermolysis bullosa (EB) is a group of rare genetic (inherited) diseases that cause very fragile skin. The condition is normally present at birth or in the first few weeks of life, and can range from mild to severe. There is no cure.

Patients with inherited epidermolysis bullosa have very fragile skin that can be injured very easily from mild trauma (eg from heat, rubbing or a bump) and result in blisters and wounds. Blisters are usually found on the feet and hands, but can also be found on other areas of the body (eg face, nappy area, mouth). Unusual scars and abnormal nails may also be present.

Epidermolysis bullosa is a complex condition and usually requires multidisciplinary care. Refer patients with suspected epidermolysis bullosa to a dermatologist for diagnosis and management. Management is tailored to each patient, and usually involves skin damage prevention (eg using soft clothing and nappies, avoiding adhesive tapes and dressings), blister management (eg draining new blisters), wound care (eg specialty dressings) and pain relief.

Specialty dressings are expensive but usually required. In Australia, a government-funded dressing scheme is available to patients with confirmed epidermolysis bullosa; for more information on the dressings scheme, see here.