The laboratory Immunodermatology is part of the Center for Blistering Diseases. This Center was founded by Prof. dr. M.F. Jonkman and is now under supervision of dr. M.C. Bolling. One of the main interests is the hereditary blistering disease epidermolysis bullosa (EB). EB is a group of rare, hereditary skin conditions with more than 30 different sub-forms divided into 4 main forms:
Epidermolysis bullosa simplex
Junctional epidermolysis bullosa
Dystrophic epidermolysis bullosa
A common characteristic of all forms is that with the slightest pressure or friction, or sometimes spontaneously, blisters can occur on the skin or in mucous membranes. These can heal but the tendency to blister will last a lifetime. There is nowadays no cure for EB. The symptoms and severity of the various forms of EB can vary widely. They range from relatively mild to severely disabled, sometimes with a fatal outcome.
With EB, there is an error in one of the proteins from which desmosomes and hemidesmosomes are built. Less protein or an abnormal protein is produced, which weakens the firmness of the keratinocytes, the adhesion between these keratinocytes or the adhesion between the keratinocytes and the dermis. This makes that blistering occurs more easily in the skin or mucous membranes. The disfunction of these adhesive proteins is caused by a gene mutation. The type of gene mutation and the protein involved determines the severity of EB.
Every patient with EB can be referred to the Center for Blistering Diseases for diagnosis, treatment and support. For diagnostics, there is a collaboration with the laboratory immunodermatology, the only laboratory in the Netherlands where EB diagnostics can be performed.
The diagnosis can usually be made within 24-48 hours when a patient suspected with EB has been seen by the dermatologist at our center and biopsies have been taken. In addition, genetic testing is performed in most cases (duration of six weeks) allowing an exact diagnosis. A multidisciplinary EB team, in which 20 specialisms work together, offers treatment and support to patients and their family members.