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Rare diseases

Chiesi is committed to helping people living with rare and ultra-rare diseases by researching and developing innovative treatments to improve patient outcomes

Please note that disease prevalence and impacts may vary; consult a healthcare provider for advice on your specific condition

Alpha-mannosidosis

Fabry disease

Nephropathic cystinosis

Beta-thalassaemia

Leber hereditary optic neuropathy

Homozygous familial hypercholesterolemia

Lipodystrophy

Epidermolysis bullosa

Epidermolysis bullosa

Epidermolysis bullosa is a group of rare skin disorders. It causes the skin to become very fragile and sensitive, and any friction or contact can result in painful blisters. There are several different genes involved in EB and changes to these can mean that you can no longer correctly make important structural components of the skin.1,2

There are different types of epidermolysis bullosa and the symptoms can vary between each type:1,2

  • Epidermolysis bullosa simplex: approximately 70% of EB cases
  • Dystrophic epidermolysis bullosa: 25% of EB cases
  • Junctional epidermolysis bullosa: 5% of EB cases
  • Kindler epidermolysis bullosa: a very rare form

Epidermolysis bullosa is estimated to affect 1 in 17,000 live births and there are currently approximately 5000 people living with the condition in the UK.3

Common signs and symptoms of epidermolysis bullosa include:1,2,4

Skin that blisters easily

Blisters on the hands and soles of the feet

Thickened skin that may be scarred or change colour over time

Thickening of the nails

Blisters and ulcers in the mouth, throat and internal organs

Tooth decay and discolouration

Increased risk of skin cancer

Eye problems including blistering of the eyes

Pain and itching

The diagnosis of epidermolysis bullosa usually involves a clinical assessment of symptoms, a review of family history and a skin biopsy. A genetic test can also be performed to determine the subtype of the condition.1,2

It is important to note that those living with epidermolysis bullosa may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected by symptoms of epidermolysis bullosa, please speak to a healthcare professional as soon as possible to get appropriate advice.

Further support and resources

There are several organisations and charities across the UK and Ireland that aim to raise awareness for patients with rare diseases. Many provide a supportive community in which individuals and their families can both seek and offer support to others facing similar challenges.

For resources to support you with managing your condition:

Patient Resources

If you’re a patient, or a carer of a patient, who has been prescribed one of our products, you’ll find information and resources to help manage your condition here

Access resources

References

  1. NHS. Epidermolysis bullosa. Available at: https://www.nhs.uk/conditions/epidermolysis-bullosa/.
  2. DEBRA. What is EB?. Available at: https://www.debra.org.uk/what-is-epidermolysis-bullosa-eb.
  3. NHS. Epidermolysis bullosa service (all ages). Available at: https://www.england.nhs.uk/wp-content/uploads/2018/08/Epidermolysis-bullosa-service-all-ages.pdf.
  4. NHS. Epidermolysis bullosa – symptoms. Available at: https://www.nhs.uk/conditions/epidermolysis-bullosa/symptoms/.