Erythropoietic Protoporphyria in a Family.
10.5021/ad.1993.5.1.25
- Author:
Son Won BYEON
;
Seung Kyung HANN
;
Jeong Ho KIM
;
Sungbin IM
;
Yoon Kee PARK
;
Oh Hun KWON
- Publication Type:Case Report
- Keywords:
Erythropoietic protoporphyria;
Free erythrocyte protoporphyrin
- MeSH:
Erythrocytes;
Feces;
Ferrochelatase;
Humans;
Liver Diseases;
Protoporphyria, Erythropoietic*
- From:Annals of Dermatology
1993;5(1):25-29
- CountryRepublic of Korea
- Language:English
-
Abstract:
Erythropoietic protoporphyria (EPP) is an autosomal dominant condition due to decreased activity of ferrochelatase. The disease is characterized by a wide range of photocutaneous changes and occasionally by liver disease. The level of protoporphyin is raised in erythkocytes and it may also be increased in the feces. We report herein a case of EPP present in a family which was diagnosed by a high free erythrocyte protoporphyrin (FEP) count.