Ugeskr Læger 2015;177:V01150015
A patient diagnosed herself with erythropoietic protoporphyria after googling photosensitivity
Erythropoietic protoporphyria (EPP) is rare genetic disease caused by decreased activity of the eighth enzyme in the haem synthesis. Patients are photosensitive, getting stinging and burning sensations in the skin after sun exposure. Delayed diagnosis of these patients is not seldom because of the rarity in combination with not always visible skin symptoms. This is a case report of a 43-year-old woman who diagnosed herself with EPP after googling photosensitivity. Genetic testing revealed a formerly undescribed mutation, c. 1096-3C>G in combination with the polymorphism, c.333-48T>C.