Although clinical characteristics often provide experienced physicians with decisive indications of the EB type, special examinations are nevertheless necessary for the exact diagnosis of an Epidermolysis bullosa.
There are various ways of determining whether a person has EB and if he or she has, which type of EB is involved:
Antigen mapping (indirect immunofluorescence): This analysis enables the physician to determine whether the diagnosis is EB simplex, EB junctionalis or EB dystrophicans. A small skin sample (biopsy) is taken and examined in the immunological laboratory of the Salzburg University Clinic for Dermatology.
Molecular genetic analysis (gene analysis): By examining a blood sample, it is possible to gain precise knowledge of the EB type and of the genetic alteration that has caused it.
A decision will be made by your attending physician or during the initial examination in the EB clinic if a further examination is necessary, or which examination should be carried out for diagnostic purposes. The decision taken depends on the individual case and is guided by various considerations. The results of an antigen mapping are available much sooner than those of a genetic analysis. However, it often makes sense to carry out a genetic analysis right away, as this enables a more precise diagnosis or validation. In addition to ensuring the right therapy and a prognosis for the course of the disease, the exact knowledge of the underlying mutation(s) is particularly important for genetic counselling for both you and your family.
Information for physicians
If a general practitioner or specialist suspects that a person has EB, he or she can contact us to initiate a diagnosis. To request a molecular genetic analysis, please contact info@eb-haus.org or call +43 (0) 5 7255–82400. The Austrian Genetic Engineering Act states that the written consent of the patient is mandatory if a molecular genetic analysis is to be carried out – and this is why the declaration of consent must be submitted to us before we can begin with the analysis. The most important forms you will need are attached:
