Study finds rare genetic skin disease

Washington: Researchers have found a method to understand a rare genetic skin disease that results in progressively enlarging skin tumours over the scalp, face, and body.
For the first time, scientists at Newcastle University, UK, 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 — suggests that the tumour cells gain a ‘survival advantage’ when the changes occur — an important step in understanding ways to develop treatments.
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 drugs 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.