成人期に確定診断に至った骨髄性プロトポルフィリン症

・成人になるまで確定診断されなかった骨髄性プロトポルフィリン症（erythropoietic protoporphyria：EPP）の1例を経験した．

・遺伝子解析にて，フェロケラターゼ（ferrochelatase：FECH）における既知の病的変異と多型が同定された．

・長男も赤血球プロトポルフィリンが高値を示し，父親と同様の遺伝子異常が認められ，EPPと診断された．

（「症例のポイント」より）

　

A case of erythropoietic protoporphyria diagnosed in adulthood

　

Kioka, Mana1）Yu, Akitoshi2）Tanizaki, Hideaki2）Kurokawa, Teruo2）Moriwaki, Shinichi2）Nakano, Hajime3） 1）Department of Dermatology, First Towakai Hospital 2）Department of Dermatology, Osaka Medical College 3）Department of Dermatology, Hirosaki University

　

A 33-year-old man occurred cutaneous photosensitivity in childhood. At the first medical examination, cheek and back of the hands were erythematous, pitted scars were seen in cheek and the area around the mouth. His protoporphyrin level in red blood cells was high, but liver function was normal. Genetic analysis determined the missense mutation and polymorphism of FECH. Thus, the patient was diagnosed as erythropoietic protoporphyria (EPP). The patient's eldest son was also diagnosed as EPP from high protoporphyrin level in red blood cells and the same genetic abnormalities as his father although he didn't exhibit photosensitivity.