2017 Volume 127 Issue 12 Pages 2641-2645
A 14-year-old boy suffered from erythematous swelling with tenderness on his eyelids, cheeks, and the dorsal surface of the hands one day after skiing. Because his erythrocyte protoporphyrin level was high, the photo-hemolysis phenomenon and fluorescent erythrocyte tests were positive, and there was hepatic damage, the patient was diagnosed with erythropoietic protoporphyria. A nonsense mutation (c.361C>T, p.R121*) and a low-expression allele (IVS3-48C) were identified in the patient's ferrochelatase gene as a compound heterozygote. His paternal grandmother and cousins had photosensitivity, the same nonsense mutation, and the polymorphism as a compound heterozygote. In contrast, the patient's father and aunt, who did not present any symptoms, had the same nonsense mutation in a heterozygous manner, but had a normal-expression allele (IVS3-48T) on another allele.