Brothers with Congenital Erythropoietic Porphyria

Abstract

FIGURE 1. Brothers with multiple hypopigmented scars of variable sizes and hypertrichosis in the face. Department of Internal Medicine, Cleveland Clinic Foundation, Cleveland, Ohio (A.G.-E.), and Internal Medicine, Hospital Universitario Virgen del Rocio, Sevilla, Andalucia, Spain (J.S.G.-M.). T wo brothers, one 16 and the other 18 years of age, presented to our outpatient service for multiple recurrent blisters and erosions on sun-exposed areas. On physical examination they showed multiple hypopigmented scars of variable sizes on the face (Figure 1), upper chest, and dorsal aspects of the upper extremities. In addition to destruction of the ear lobes (Figure 2) and the cartilage of the nose, erythrodontia, resorption of the distal phalanges in the hands (Figure 3), hypertrichosis of the face and extremities (Figure 1), and hepatosplenomegaly were present. Increased concentrations of porphyrins were measured in the urine and plasma, establishing the diagnosis of erythropoietic porphyria due to a deficiency of uroporphyrinogen III synthase activity. Given the autosomal recessive pattern of transmission of the disease, genetics testing was performed on their mother and father and revealed a known pathogenic heterozygous sequence variation of the C73R and P248Q genes, respectively. The patients were recommended to use beta carotene and avoid sunlight.