Breakthrough in genetic skin disease made by university

A breakthrough has been made in understanding a rare genetic skin disease that causes enlarging skin tumours over the scalp, face and body.

For the first time, scientists at Newcastle University have identified changes in the DNA of the tumour cells in those with CYLD cutaneous syndrome (CCS) that may help them grow.

A study published in Nature Communications suggest that the tumour cells gain a ‘survival advantage’ when the changes occur – an important step in understanding ways to treat it.

CCS is a hereditary condition that affects areas of the body where there are hair follicles and leads to skin tumours called “cylindromas” forming and continually growing.

The alterations discovered by the experts were in two genes that are found in the skin tumours. One of the changes highlights a mechanism that the skin tumour cells use to survive and it is hoped that these could be targeted with a new class of drug to inhibit their growth. The change to the second gene is novel for skin tumours and warrants further investigation to establish the significance it has on the growth of the tumours.

Dr Neil Rajan, Senior Lecturer and Honorary Consultant Dermatologist at Newcastle University’s Faculty of Medical Sciences, led the research, which was done with the University of Cambridge. CCS has long intrigued scientists and it is estimated that around one in 100,000 people develop the condition. Patients typically get their first tumour just after puberty, and women are more severely affected than men.

Tumours can be as large as 5cm-10cm and, in severe cases, up to a hundred tumours can affect the entire face and scalp.

As the tumours keep growing, complete scalp removal is sometimes needed to control tumour burden.