Erythropoietic Protoporphyria

Erythropoietic protoporphyria (EPP) is a ferrochelatase deficiency causing protoporphyrin IX accumulation in red cells/liver. Clinical: acute painful photosensitivity (immediate burning, itching, erythema, edema) after sun exposure, without blistering; chronic lichenoid lesions; rare protoporphyrin hepatopathy. Treatment: strict sun protection, oral beta-carotene/afamelanotide; manage liver disease.

Common Symptoms

Immediate painful photosensitivity; burning/itching after sun; erythema/edema; chronic lichenoid skin changes; possible liver disease

Causes and Pathogenesis

Ferrochelatase deficiency causes protoporphyrin accumulation, which photosensitizes skin and can deposit in liver.

Treatment

Strict UV protection; oral beta-carotene; afamelanotide; manage hepatic protoporphyrinosis

Preventive Measures

Strict sun avoidance/protective clothing; genetic counseling.

Department to Visit

It is recommended to visit the Dermatology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.