Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members

Summary Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis caused by decreased activity of the enzyme ferrochelatase (FECH), which catalyses the insertion of iron into protoporphyrin, the last step in haem biosynthesis. Development of clinically overt EPP usually requi...

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Veröffentlicht in:	British journal of dermatology (1951) 2007-11, Vol.157 (5), p.1030-1031
Hauptverfasser:	Berroeta, L., Man, I., Goudie, D.R., Whatley, S.D., Elder, G.H., Ibbotson, S.H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Biological and medical sciences Dermatology erythropoietic protoporphyria Female ferrochelatase Ferrochelatase - genetics ferrochelatase mutations Genotype Humans inheritance Medical sciences Metabolic diseases Middle Aged Other metabolic disorders Photosensitivity Disorders - etiology Pigments (porphyrias, hyperbilirubinemias...) porphyrins Protoporphyria, Erythropoietic - complications Protoporphyria, Erythropoietic - diagnosis Protoporphyria, Erythropoietic - genetics Skin involvement in other diseases. Miscellaneous. General aspects
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