Erythropoietic (congenital) porphyria: A rare abnormality of the normoblasts.

ECENT STUDIES” 2, 3 have emphasized that in human beings, photosensitivity occurs as a result of two fundamentally different disturbances of porphyrin metabolism. In porphyria cutanea tarda, in which the excessive porphyrin formation is believed to take place in the liver, symptoms are seldom manifest before adult life.’ Its porphyria erythropoietica (congeisital, photosensitive), where large amounts of porphyrins are formed in the hone marrow, red urine and photosensitivity are either present shortly after birth or develop early in life.’ ‘ 2, 4 Iii addition, anemia and splenomegaly usually appear sooner or later iii these cases, and may be accompanied by hypertrichosis and erythrodontia. In studying bone marrow sections of a case of congenital porphyria (case Petry) , with the fluorescence microscope, Borst and Konigsdorffer observed that developing erythropoietic cells contained unusually large amounts of porphyrin.’ Subsequent studies have shown that in these cells, most of the porphyrin appeared to be concentrated in the nuclei,’ ‘ 2 but at the same time, normoblasts in various stages of maturation were found, w’hich lacked any red fluorescence.’ In the present study, observations are reported on bone marrow samples from 5 cases of erythropoietic (congenital, photosensitive) porphyria.