Epidermolysis bullosa (EB) is one of those rare diseases that you may not ever see in clinical practice. But when you do, it leaves a lasting impact. The people living with this devastating skin disease are among the bravest.
EB is a group of genetic disorders that are rare, heterogenous, and debilitating. Patients with EB experience painful blistering of their fragile skin in response to even minor trauma or friction.
They live each day with significant pain, intense itch, and agonizing & frequent wound dressing changes.
Patients with the most severe forms of EB may experience1:
1. Fine JD. Orphanet Journal of Rare Diseases 2010, 5:12.
Epidermolysis bullosa (EB) is a rare, inherited, and debilitating skin condition with a devastating effect, causing lifelong disability, pain, and sometimes death. This complex group of diseases affects the integrity of epithelial tissues.
In patients living with EB, the slightest touch can cause painful tearing and blistering of the skin. In severe cases, blistering can occur all over the body and on internal organs.
Learn more about EB by clicking the categories below.
In EB, fragility of the skin ranges based on disease type, with initial classification based on the layer of skin in which blisters develop.2 Here we show the forms ranging from most severe to most common.
1.Bruckner-Tuderman L, et al. J Invest Dermatol 2013:133, 2121-2126; doi:10.1038/jid.2013.127.
2. Orpha.net. Inherited epidermolysis bullosa. Available at: https://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=79361. Accessed 08.08.21.
Epidermolysis bullosa (EB) may be diagnosed and subclassified by the collective findings obtained through clinical observation, detailed personal and family history, along with results of laboratory testing, and in some cases, DNA analysis.
IFM, immunofluorescence mapping; IHC, immunohistochemistry; TEM, transmission electron microscopy
1.Has C, et al. Br J Dermatol 2020;183:614
Currently there is no cure or approved therapy for epidermolysis bullosa (EB). Today, treatment focuses on wound and pain management and prevention of new injury.
The optimal management of patients living with EB requires a multidisciplinary approach, primarily revolving around protecting susceptible tissues against trauma, using sophisticated wound care dressings, providing aggressive nutritional support, and enlisting early medical or surgical interventions to correct the extracutaneous complications, whenever possible.1
There is a clear, unmet need for effective medical therapies for patients living with EB; their wounds cause pain and severe itching, and those with severe types of EB experience significant morbidity and mortality.
1. Orpha.net. Inherited epidermolysis bullosa. Available at: https://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=79361. Accessed 08.08.21.
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