Itchy skin is something we have all experienced; but surprisingly it is something of a medical mystery.

However a breakthrough study, funded by UK charity Action Medical Research, has found new genetic mutations that can cause the skin to itch.

Published yesterday in the American Journal of Human Genetics, this research is the first ever discovery of a gene abnormality that directly causes itchy skin.

Itchy skin is one of the most common and least understood symptoms in dermatology. Until now little had been known about itch mediators, receptors and pathways in the skin and, as a result, treatments for relieving itchiness have been limited.

An itchy skin disorder often seen by dermatologists is primary localised cutaneous amyloidosis (PLCA). There are several thousand people with this condition in the UK and hundreds of thousands of sufferers around the world.

Initial work by the King's College London based team, which also involved investigative dermatologists from Brazil, South Africa and Japan, has looked at the inherited form of the disease known as familial primary cutaneous amyloidosis.

The research has shown that mutations in the oncostatin M receptor-beta gene (OSMR) are the cause of this form of the skin disorder.

The team has discovered that skin cells with a mutant copy of the OSMR gene respond differently to certain stimulating…