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Why patients with epidermolysis bullosa suffer extreme pain
Date:7/8/2011

For patients suffering from epidermolysis bullosa (EB), a hereditary skin disease, even a gentle touch is extremely painful. Now Dr. Li-Yang Chiang, Dr. Kate Poole and Professor Gary R. Lewin of the Max Delbrck Center for Molecular Medicine (MDC) in Berlin-Buch have discovered the causes underlying this disease. Due to a genetic defect, individuals with EB cannot form laminin-332, a structural molecule of the skin that in healthy individuals inhibits the transduction of tactile stimuli and neuronal branching (Nature Neuroscience, doi: 10.1038/nn.2873)*. According to the findings of the MDC researchers, this explains why EB patients are more sensitive to touch and experience it as painful.

Even the slightest touch causes a stinging sensation like being stabbed with pins; the body is covered with blisters and the skin is inflamed in many places. Young patients with epidermolysis bullosa are often called "butterfly children" because their skin is as fragile as a butterfly's wing. Because of the severe pain associated with the disease, EB sufferers hardly have any chance to lead a normal life. Even walking is a torment because of the pressure on the soles of the feet.

Due to a genetic defect, the patients' outer skin layer (epidermis) separates from the underlying skin layer (dermis), and blisters (bullosa) are formed. EB patients are deficient in laminin-332, a structural molecule normally found between the skin cells in the extracellular matrix which serves as a kind of cellular "glue" between the two skin layers.

The new findings of the MDC researchers show that in healthy individuals, laminin-332 has other important functions as well: It inhibits touch transduction and prevents the branching of the sensory neurons that are receptive to tactile stimuli in the skin.

At their endings, sensory neurons have mechanosensitive ion channels. These are proteins in the cell membrane through which charged particles can flow into
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Contact: bachtler@mdc-berlin.de
bachtler@mdc-berlin.de
49-309-406-3896
Helmholtz Association of German Research Centres
Source:Eurekalert

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