A Case of Congenital Erythropoietic Porphyria / 대한피부과학회지

ABSTRACT

A 3-year-old-male had the appearance of red urine at birth and developed recurrent bullae in sun-exposed area of the skin, erythrodontia, alopecia, splenomegaly and hemolytic anemia, We observed coral red fluorescence of the teeth and urine under Wood's light and detected excessive excretion of the uroporphyrin in the urine and coproporphyrin in the stool wlth inreased porphyrin in the blood. Fluorescence of erythrocyte was demonstrated byfluoreacence microscopy. Histologic findings showed subepidermal bulla with PAS-positive hyaline deposits around the blood vessels and revealed IgG deposits in the wall of blood vessels and dermo-epidermal junction by direct immunofluorescence.