Genetics of hidradenitis suppurativa

Genetics of Hidradenitis Suppurativa

What is hidradenitis suppurativa? 

Hidradenitis suppurativa (HS), also known as Acne Inversa, is a serious skin condition. It is affecting about 1 out of every 100 people, especially people with lighter skin. But it can affect anyone, including people with darker skin. The condition usually starts when a person is a teenager or young adult. It causes painful, deep bumps under the skin in areas where skin folds, like under the arms, groin, buttocks, and under the breasts. These bumps can turn into abscesses, which are swollen areas filled with pus. Over time, these abscesses can turn into tunnels under the skin that leak a bad-smelling fluid. When these areas heal, they can leave behind thick scars. In rare cases, these areas can even turn into a type of skin cancer called squamous cell carcinoma. Doctors don’t fully understand what causes HS. Treatments include antibiotics for infections, surgery to remove the affected skin, and special medications that block inflammation. But even with treatment, HS can come back again and again over a person’s lifetime. 

How was the research done?

Researchers will see which patients have gamma-secretase mutations. Gamma-secretase is like a tiny pair of scissors inside our cells. It cuts certain proteins into smaller pieces, which is necessary for the normal functioning of our cells. Researchers are checking if people with HS in our study group have these mutations too. They do this by using a high-tech method called sequencing, which allows scientists to create a complete map of the genome. In the end, they want to create a complete map of the genetic material (genome) of some people in the group. 

What is the importance of this study? 

This study will allow researchers to expand research of HS into many ethnicities to see if these mutations are found in these diverse groups. This will make it easier to check samples in the future, and help spot bigger changes in the amount of copies of a gene. Finding more changes in genes and seeing how they affect things is an important part to understanding the basic science of HS risk.