Epidermolyses Bullosa (EB) is a rare group of inherited disorders that manifest as blistering or erosion of the skin and, in some cases, the epithelial lining of other organs, in response to little or no apparent trauma.
- Specific challenges associated with the recognition of the condition
Mild cases may have nail only or lichen-planus-like presentation. Late-onset blisters are often attributed to other diseases. Differentiation of different types of EB can be difficult on clinical grounds alone in the neonatal period.
- Specific challenges associated with the diagnosis
Diagnosis is increased in complexity like the mantles of an onion: clinical – EM blister level – protein deficiency – DNA (RNA).
- Specific challenges associated with the treatment
Multiple organs are affected, and therefore multiple disciplines are involved. The challenge is to integrate the management of all disciplines. In severe EB, patients may be faced with numerous treatments or interventions on a daily basis which can affect compliance.
- Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps accross the care continuum
The care needs continuity from childhood to adulthood; services need to provide appropriate transitional care between paediatric and adult settings.
Prevalence : The estimated prevalence of all forms of EB in the EU is 50,000 to 80,000 cases.