title: [A patient diagnosed herself with erythropoietic protoporphyria after googling photosensitivity].
abstract: 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.
authors.affiliation: Afdeling for Klinisk Biokemi og Farmakologi, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C. anne.lindegaard@rsyd.dk.
authors.forename: Anne L
authors.initials: AL
authors.lastname: Christiansen
authors.forename: Klaus
authors.initials: K
authors.lastname: Brusgaard
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
mesh_terms: D000328:Adult; D059026:Diagnostic Self Evaluation; D005260:Female; D006801:Humans; D046351:Protoporphyria, Erythropoietic / Q000175:diagnosis* / Q000473:pathology; D057386:Search Engine