A Further Contribution to the Study of Congenital Porphyrinuria (Haematoporphyria Congenita)

Abstract

An account of the progress, during 4 yrs., of a boy with congenital porphyrinuria, case previously described. Chemical examination showed that the most abundant pigment in the urine was uroporphyrin; in the feces, copro- (sterco-) porphyrin. The blood showed an abnormal number of young red blood cells, suggesting rapid erythrocyte formation. Spleen and liver were enlarged. Transillumination of the hands showed increased pigmentation of the bones. The value of the fluorescence test in detection of porphyrin in teeth is described, and the cause of pigmentation of teeth in certain cases discussed. Some therapeutic measures are given.