[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms].
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder, resulting from a deficiency of a specific enzyme, ferrochelatase, in the haem biosynthesis pathway. Early and late skin symptoms in EPP are demonstrated by three case stories. Diagnosis depends on characteristic skin symptoms and raised level of protoporphyrin in erythrocytes. The cases illustrate the aspect of inheritance, prophylaxis and recommended follow-up in EPP.
Dam
Claus
C
Baagøes Allé 8A, 3. th., DK-5700 Svendborg. damclaus@hotmail.com.
Bathum
Lise
L
Sommerlund
Mette
M
Bygum
Anette
A
D000328:Adult; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D017092:Porphyria, Erythropoietic / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy; D012867:Skin / Q000166:cytology / Q000473:pathology