Entries in Erythropoietic Protoporphyria (2)


Implant for Skin Diseases...and Tanning?

Creatas Images/Thinkstock(WASHINGTON) -- For Robert Saupe, there was never any such thing as fun in the sun. He has a condition called erythropoietic protoporphyria, or EPP, a rare disease that causes extreme sensitivity to sunlight and certain types of artificial light.

"I don't go outside without having a long-sleeve shirt on, a hat, a bandanna and gloves," he said.

EPP is caused by elevated levels of porphyrins, the chemicals responsible for the synthesis of hemoglobin, the protein that carries oxygen in the blood, producing a toxic reaction to the sun. After the skin is exposed for only a short time, it can turn extremely red and develop symptoms of intense itching, swelling and burning.

EPP is especially challenging for Saupe in the summer, since he works outdoors as an excavator.

"On the hot days wearing all that -- it's exhausting," said Saupe, 45. "There are times I want to pass out."

But a tiny implant helped Saupe finally enjoy the joys of summer that most people take for granted. The implant, called Scenesse, increases the levels of melanin in the skin, which provides protection against ultraviolet rays. The protective effect lasts about two months, according to Clinuvel, the drug's Australian manufacturer.

"I got to live a normal life," said Saupe, 45. "I got to go in the lake with my granddaughters and we had a lot of fun."

There are few treatments available for EPP. According to the American Porphyria Foundation, beta-carotene is the most effective therapy available, and acts by making the skin less sensitive to sun.

Dermatologists say while it's too early to know how safe Scenesse will be in the long run, results from early clinical trials show promise.

"It's definitely novel," said Dr. Elma Baron, a dermatologist at University Hospitals Case Medical Center in Cleveland. "So far, it's been safe and effective."

While it may show some benefit against EPP and other skin diseases, the protective effect may not extend to all conditions.

"There's no proof it can be effective for skin cancer," said Dr. Michel McDonald, director of Cosmetic Dermatology at Vanderbilt University Medical Center, who worries that increasing the levels of melanin could increase the risk of developing melanoma, although there's no evidence of that yet.

The drug was once available as an injection, but the effects didn't last long.

One side effect of the drug is its ability to make skin darker because of the melanin. But doctors warn there is no indication right now that it could be a safe way to tan.

"People are always excited when there's a product that can induce tanning without the risk of additional UV light," said Baron. "I'm interested in seeing how the clinical trials demonstrate safety, but at this point, it's too early to tell whether it can be used for that indication."

McDonald also warned against trying other similar products on the market.

"There are mimickers of this product out there, and they can be dangerous," she said. "This product isn't out yet, and safety hasn't been fully evaluated."

Right now, the company is not marketing Scenesse for tanning. Clinical trials are under way for other skin conditions, including vitiligo, the condition that causes irregular skin pigmentation.  

Copyright 2011 ABC News Radio


Sunlight Allergy 'Like Pouring Hot Wax On Your Skin'

Courtesy Craig Leppert(NEW YORK) -- Many people are preparing to spend some time in the spring sunshine. But for one Syracuse University student, it's all fun and games until the sun comes out. Craig Leppert, 20, has a rare genetic disorder, called erythropoietic protoporphyria (EPP), that makes him allergic to sunlight.

"When I get burned by the sun, it feels a lot like pouring hot wax on your skin, or having your hand cut with a knife and put over a stove," Leppert explained. "It's probably the worst feeling of pain I've ever felt. And I've broken a bone before, and I'd rather break a bone than get burned by the sun."

This week marks National EPP Awareness Week, a time of the year that Leppert often uses to spread the word about the effects of this disease.

"I met a ton of people through Facebook and e-mail who have EPP who see me and my family on TV and they reach out," he said. "They didn't know they had it 'til they saw similar symptoms of what I went through with EPP. So that's kind of a cool thing and to meet people and bounce ideas about EPP off of each other."

EPP is a rare disease. According to the American Porphyria Foundation, an estimated 50,000 to 75,000 people suffer from EPP in the United States.

It's so uncommon, in fact, it took Leppert and his family a few years before they discovered his diagnosis. He said he first started exhibiting symptoms when he was 18 months old.

EPP is caused by the body's genetic defect in the enzyme responsible for metabolizing protoporphyrin, a precursor of hemoglobin, the protein in red blood cells that transport oxygen. Since people with EPP cannot metabolize protoporphyrin properly, it gets excreted from the red blood cells and ends up in the skin.

"And that's what reacts with sunlight when he goes out into the sun," said Dr. Micheline Mathews-Roth, an associate professor at Harvard Medical School. "That [enzyme defect] causes these local reactions of itching and burning. And some people do get skin lesions looking as if they have burned skin.”

Dr. Mathews-Roth has completed a number of studies on EPP throughout the years and said there is not a cure for the disease just yet, although doctors have made some headway in recent years.

Copyright 2011 ABC News Radio

ABC News Radio