Diagnosis

Diagnosis is based on a detailed anamnesis, which includes information on the age of occurrence of the disease, the most common spots of bladder formation and wounds, appearance of warts on the mucous membranes, changes in the nails, the scalp and the like.

It is certainly necessary to include information on the appearance of a similar disease in the family or some of the symptoms that can be seen in this disease.

Further detailed clinical examination and tracing for symptoms characteristic of a particular disease subtype is required.

Laboratory assessment of the disease implies taking the skin piece for a detailed examination.

In addition to the "classic histological examination", skin scan is performed by electronic microscopy, which can show the finer changes or skin texture deficiencies. The latest techniques used antibodies, or markers, for specific proteins in the skin.

These markers are most often marked with a color. If the protein contained in the analyzed skin is recognized by the marker, the marker antibody binds to it and "color" it. If the protein is missing no binding occurs, and the dyeing of the tissue will also be absent.

In this way it can be accurately determined which protein or even part of the protein in the skin is missing.

Then, at least for some subtypes of the disease can be accessed by genetic analysis, ie determination of the gene mutation in the patient concerned.

Today, there is the possibility that in a family who already has one diseased child of hereditary bullous epidermolysis, set or exclude a diagnosis in an unborn child.

Diagnosis can be made by analyzing the skin of an unborn child (for which a piece of child's skin is taken over by the mother's belly) or by taking part of the placenta already in the earliest pregnancy.