Congenital erythropoietic porphyria: I. Case report, special studies and therapy

Abstract

A fourteen year old girl with classic congenital erythropoietic porphyria has recurrent skin bullae, mutilating scarring of the face and hands, hirsutism, porphyrinuria, discolored fluorescent teeth, fluorescent erythroid cells, increased hemolysis and grossly increased excretion of porphyrins. The distribution of discoloration in her primary and secondary teeth suggests that after birth there was a marked decrease in porphyrin production which rose again after the age of one to one and a half years. Two periods of temporary, marked decrease in porphyrinuria following acute minor illness were observed. Bone marrow findings during one of these episodes suggested that they were due to transient erythroid hypoplasia. Intrinsically abnormal red cells are present, with a resultant mild compensated hemolytic process. Less hematologic significant features are hypersplenism and abnormal erythropoiesis. The patient's skin lesions seem to be most directly related to increased skin fragility in areas chronically exposed to the sun. Studies of porphyrin excretion indicate that her porphyrin production is about twice what might be expected for a normal child with an equivalent rate of hemoglobin synthesis and that almost all of this excess is of isomer type I, which is incapable of being converted to protoporphyrin and heme. Only a small fraction of her excreted porphyrins can be attributed to those in the peripheral circulation, suggesting that most comes directly from the marrow. The lack of response to therapeutic trials of purine precursors (inosine and adenosine monophosphate) is reported. The therapeutic value of splenectomy, glucocorticoids and hypertransfusion is discussed.