Alcohol use, hepatitis C trigger porphyria cutanea tarda in man, 59
Minimizing sun exposure, treating hepatitis recommended, per case report
Heavy alcohol use and hepatitis C, a viral infection that can cause damage to the liver, may have triggered porphyria cutanea tarda, a common form of porphyria that manifests as painful lesions on sun-exposed skin areas, usually in late adulthood, in a 59-year-old man in Indianapolis.
“The distinctive [skin] pattern and history of patients with porphyria cutanea tarda can aid in the diagnosis of liver [disease mechanisms] and facilitate linkage to treatment,” Daniel S. Brenner, MD, PhD, assistant professor at Indiana University School of Medicine, wrote in the study reporting the patient’s case.
The study, “Man with painful light-evoked skin lesions,” was published in The Journal of Emergency Medicine.
Rashes are a frequent reason for visits to the emergency department and can have many causes. Some rashes are triggered by external factors like allergens or infections, while others may indicate a more serious, previously unrecognized disease. Identifying the cause is essential for proper treatment.
Brenner reported the case of a man with a history of heavy drinking and coronary artery disease, a type of heart disease, who visited the emergency department with a painful rash. For three years, lesions had appeared on his hands and arms each summer while he was working outdoors as a painter, only to resolve during the winter.
Initial diagnosis: Cellulitis
The lesions on the man’s hands seemed to be worsening, and for the first time, he had developed lesions on his legs. Concerned about the changes, he visited the emergency department, where he was diagnosed with cellulitis, an infection of the inner layers of the skin. He was prescribed doxycycline, an antibiotic, but the rash didn’t ease.
Further physical examination revealed widespread skin discoloration (lightening) on his arms and small sores on the backs of his hands. His right leg had a sore measuring 4 cm (about 1.5 inches) wide, and his legs, elbows, and forearms had scattered papular lesions, which are solid and usually small raised areas on the skin.
Doctors ordered lab tests, which showed very high levels of porphyrins, molecules that build up to toxic levels in the bodies of people with porphyria. Based on these findings, they made a diagnosis of porphyria cutanea tarda, the most common form of porphyria.
Porphyrins are precursors to heme, a molecule essential for oxygen transport in the body. Heme is produced through a step-by-step process involving multiple enzymes. In porphyria cutanea tarda, a liver enzyme called uroporphyrinogen decarboxylase (UROD) is underactive, causing porphyrins to build up in the skin and make it highly sensitive to sunlight, leading to painful lesions.
The man also tested positive for hepatitis C, a liver infection caused by the hepatitis C virus, with a high viral load. He was referred for treatment of alcohol abuse and hepatitis C, which were likely causing his porphyria symptoms. “Successful treatment of hepatitis C is often curative in cases of acquired porphyria cutanea tarda,” Brenner wrote.
The man was also advised to wear sun-protective clothing and avoid heavy exposure to sun.
For some patients, porphyria cutanea tarda is caused by mutations in the UROD gene that cause the enzyme to be underactive. However, the disease most often results from liver damage stemming from causes including heavy drinking and hepatitis C. Treating hepatitis C can cure the disease by restoring normal enzyme activity.
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