Scaly Skin and Other Rare Skin Problems: Customized Treatment Through Genetics

How genetic research led to a new treatment for a rare skin disease.

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.  

The video above shows the patient journey for Jonathan Crosby, who has a condition called Disseminated Superficial Actinic Porokeratosis (DSAP), causing his skin to become scaly and red, especially after sun exposure. After years of seeing multiple dermatologists and still not finding relief, he heard about Dr. Choate’s group. “The opportunity to work with Yale was really what I saw as my best chance of being able to actually figure this condition out,” Crosby said.

To learn more, visit Yalemedicine.org.