Ann Dermatol.  1993 Jan;5(1):25-29. 10.5021/ad.1993.5.1.25.

Erythropoietic Protoporphyria in a Family

• Byeon SW
• Hann SK
• Kim JH
• Im S
• Park YK
• Kwon OH

• KMID: 2361730
• DOI: http://doi.org/10.5021/ad.1993.5.1.25

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.

Keyword

Erythropoietic protoporphyria; Free erythrocyte protoporphyrin

MeSH Terms

Erythrocytes
Feces
Ferrochelatase
Humans
Liver Diseases
Protoporphyria, Erythropoietic*
Ferrochelatase