EPP diagnosis took 3 years and a second liver biopsy for boy in Japan

For a teenage boy in Japan, it wasn’t until getting a second liver biopsy — nearly three years after his initial one — that he was accurately diagnosed with erythropoietic protoporphyria (EPP). This case highlights that “EPP should be considered in young patients with unexplained liver dysfunction, skin symptoms,…

New Mutation in FECH Gene Linked to EPP, Case Study Reports

A new mutation in the FECH gene was identified as the cause of erythropoietic protoporphyria in a 14-year-old Japanese boy, as described in a recent study. The case report was published in the form of a letter to the editor in The Journal of…

Japanese Researchers Report Case of Familial PCT with New UROD Mutation

Researchers described the case of a Japanese patient with familial porphyria cutanea tarda (PCT) carrying a previously unreported mutation in the UROD gene. The case report, “The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation,” appeared in the Journal…