Abstract: The clinical data of a patient with erythropoietic protoporphyria (EPP) were collected and DNA was extracted from his peripheral blood. The mutation of ferrochelatase (FECH) was detected by Singer sequencing and 100 healthy individuals were enrolled as controls. Most of the lesions were thickening and on the exposure area, while the facial lesions have a waxy sheen and the lesions on the dorsa of the hands were dense skin colour miliary papules. The colour of his serum, feces and urine under the Wood's lamp was light pink. There were a large number of erythrocytes on the blood smear under fluorescence microscope and the red fluorescence was seen with hematofluorometer. Histological examination showed hyperkeratosis of the epidermis and increased pigment in the basal layer, fibroblast proliferation in dermis, pink deposit collagen deposition and elastic fibrodegeneration of the skin. PAS stain of the large clumps in the dermis was positive. The congo red stain was (±). Two mutations in his FECH gene were found, c.181C>T (p.Q61x) and IVS3-48C (T>C). 

Key words: erythropoietic protoporphyria, ferrochelatase