Customized Treatment For Rare Skin Disease Through Genetics

For more information on dermatology or #YaleMedicine, visit: https://www.yalemedicine.org/stories/....


We hear a lot about treatments for skin problems like an acne flare-up, a worrisome mole, or eczema. But there are also quite a few rare, severe skin conditions that can have a major impact on quality of life, whether because they are painful or make you self-conscious about your appearance. Also, skin disorders can affect other parts of the body as well. For instance, erythrokeratodermia-cardiomyopathy (EKC) syndrome is a condition that causes plaques to form on the skin and also heart abnormalities. And people with genetic skin diseases are much more likely to experience depression. “Most disorders have a genetic basis, and in skin diseases, it’s incredibly easy to see them,” says dermatologist Keith Choate, MD, PhD. The unique thing about skin diseases, he says, is that the entire skin is made up of the same cells, performing different roles depending on the location on the body. “When we find a mutation in a new gene, the first thing that we do is ask, ‘What is the normal function of this gene within the skin?”’ Dr. Choate uses genetics to diagnose and treat rare skin diseases. At Yale, over a dozen new genetic skin diseases have been defined, and in some cases, Dr. Choate’s group has been able to develop treatments for them. ac