Erythropoietic Porphyria

Congenital erythropoietic porphyria (Gunther disease) is autosomal-recessive uroporphyrinogen-III-synthase deficiency causing porphyrin accumulation. Clinical: severe photosensitivity with blistering/scarring/mutilation, hypertrichosis, red-brown urine, red fluorescent teeth/bones, hemolytic anemia, splenomegaly. Treatment: strict sun protection, transfusion/erythrocyte suppression, splenectomy, hematopoietic stem-cell transplant in severe cases.

Common Symptoms

Severe photosensitivity; blistering/scarring; hypertrichosis; red urine/teeth; hemolytic anemia; splenomegaly

Causes and Pathogenesis

Uroporphyrinogen-III-synthase deficiency causes type-I porphyrin accumulation in erythrocytes, photosensitizing skin and causing hemolysis.

Treatment

Strict sun protection; transfusions; splenectomy; HSCT in severe cases; supportive wound care

Preventive Measures

Strict UV protection; genetic counseling; early HSCT evaluation.

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.