[A patient diagnosed herself with erythropoietic protoporphyria after googling photosensitivity]. / Googlede lysfølsomhed og diagnosticerede sig selvmed erytropoietisk protoporfyri.
Ugeskr Laeger
; 177(30)2015 Jul 20.
Article
em Da
| MEDLINE
| ID: mdl-26240047
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.
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Base de dados:
MEDLINE
Assunto principal:
Protoporfiria Eritropoética
/
Autoavaliação Diagnóstica
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
Da
Ano de publicação:
2015
Tipo de documento:
Article