Expert Shares Challenging Cases From Stanford
The girl was healthy and described one remote episode of burning hands following a hike several years before. She was on naproxen and ranitidine, which had been prescribed by the rheumatologist as treatment for the redness and swelling.
Her family history was unremarkable. "She had no muscular weakness or abdominal pain," Dr. Bruckner said. "The work-up by the rheumatologist was negative for autoimmune disease."
Clinical exam revealed a few waxy papules and plaques distributed over the knuckles. Her hands also had a slightly weather-beaten appearance. A skin biopsy showed cuffs of hyaline material around the superficial blood vessels in the upper dermis, suggesting a diagnosis of erythropoietic protoporphyria (EPP). Confirmatory studies demonstrated that the patient had elevated total red blood cell porphyrins with a predominance of free protoporphyrin.
EPP is the most common type of porphyria in children. It presents between 1 and 6 years of age and symptoms include burning, stinging, redness, and edema, which all occur after sun exposure.
The condition is caused by a deficiency of ferrochelatase, which leads to accumulation of protoporphyrin IX.
Treatment involves sun avoidance, sunscreens, and beta-carotene 30150 mg/day.
The girl developed a sense of social isolation because she attended a school where the children ate lunch and played outside. "She had to eat lunch off in a corner by herself, so she really was not able to interact with her peers when she was at school," Dr. Bruckner said. "This was very distressing for her. In addition, the beta-carotene pills were large and difficult to swallow."
Luckily, she said, the girl had a "tenacious" mother who worked with school officials to create opportunities for her daughter to socialize in shaded or indoor areas during lunch and recess.
"We need to have parents who are willing to be advocates for their children," Dr. Bruckner said.
When skin conditions lead to social isolation, we need 'parents who are willing to be advocates for their children.' DR. BRUCKNER
A 9-year-old girl with erythropoietic protoporphyria presented with waxy papules and plaques on her knuckles.
Scaly plaque is seen on the right lower extremity of a 16-year-old boy diagnosed with linear porokeratosis. PHOTOS COURTESY DR. ANNA L. BRUCKNER
