Erythropoietic Protoporphyria: You May Not Have Seen It, but It May Have Seen You

Abstract

Erythropoietic protoporphyria is a rare skin condition that commonly presents in childhood. We report a case of a 35-year-old Hispanic male with a history of sun sensitivity, presenting with complaints of immediate burning and itching of the skin on his face and upper extremities upon sun exposure. On examination, there was minimal face erythema and calluses over the knuckles. Laboratory workup demonstrated substantially increased protoporphyrin (over 10 times the upper limit of normal) along with elevated liver enzyme levels. Liver biopsy confirmed stage 4 cirrhosis. Our patient’s cutaneous manifestations were the primary complaint that led to the diagnosis of his terminal hepatic illness. We recommend screening for erythropoietic protoporphyria in patients who present with a life-long history of non-blistering, burning and itching of the skin, which begins immediately upon sun exposure.

Definitive Confirmation of Erythropoietic Protoporphyria via Re-biopsy Three Years After Initial Liver Biopsy at Age 15

“…Erythropoietic protoporphyria (EPP) is a rare inherited disorder of porphyrin metabolism caused by decreased activity of ferrochelatase (FECH), an enzyme that catalyzes the chelation of iron into protoporphyrin to form heme [1][2][3][4]. FECH deficiency is associated with increased concentrations of protoporphyrin in erythrocytes, plasma, skin, and liver [5].…”

“…FECH deficiency is associated with increased concentrations of protoporphyrin in erythrocytes, plasma, skin, and liver [ 5 ]. Protoporphyrin accumulation in the skin causes photosensitivity, which is the chief symptom [ 1 , 3 ].…”