Abstract
Among the various forms of inherited diseases of porphyrin metabolism, congenital erythropoietic porphyria stands out as a well-defined and very rare disorder. So far, a total of 13 proved cases have been reported in Japan. The metabolic defect is found in the maturing erythroid cells of the bone marrow and leads to overproduction of porphyrins of type I isomer. We recently had an opportunity to observe and investigate a patient with clinical manifestations of this type.
Report of a Case
A 5-year-old Japanese girl was first seen at our clinic on May 21, 1966, with cutaneous lesions of the face and back of the hands, and an excretion of dark reddish brown urine of four years duration. Family history elicited nothing of significance.
Fine dark hair resembling lanugo covered markedly the face and extremities. Deciduous teeth showed a brownish discoloration (erythrodontia), and under ultraviolet light exhibited red fluorescence.
Splenomegaly was absent. Hypertension and abdominal or neurologic symptoms were not found.
Laboratory studies; liver function tests were all within normal limits, and liver biopsy showed no particular change.
Hematologic examination; hemoglobin concentration 12.4 gm%; red blood cell count 3.74 million; white blood cell count 6,300; reticulocytes 8‰. A decreased erythrocyte life span was demonstrated by the Cr51 method. Bone marrow showed erythroid hyperplasia and fluorescence microscopic studies of unstained bone marrow preparations revealed intense porphyrin fluorescence in nucleated red cells, particularly in nuclei. Many fluorescing normoblasts exhibited morphologic abnormalities in nuclear structure, consisting of PAS (-) inclusion. Protoporphyrin concentration of circulation red blood cell was 22.0 μg/100 ml.
Chemical examination: porphyrin determinations in urine are given in Table 1. The amount of uroporphyrin excreted were always increased. In addition, the urine contained large amount of coproporphyrin, but the concentration was less than that of uroporphyrin. Smaller amounts of porphyrins with six and five carboxyl groups were also demonstrated. These urinary porphyrins were identified as the type I isomer. Porphobilinogen and protoporphyrin were consistently absent from the urine.
