A Case of Erythropoietic Protoporphyria.
- Author:
Dong Keun LEE
1
;
Ji Soo PARK
;
Moon Kyun CHO
;
Sook Ja SON
;
Dong Jun KIM
Author Information
1. Department of Dermatology, National Medical Center.
- Publication Type:Case Report
- Keywords:
Erythropoietic protoporphyria;
Free erythrocyte protoporphyrin
- MeSH:
Adult;
Burns;
Child, Preschool;
Cicatrix;
Dermis;
Eosinophils;
Erythema;
Ferrochelatase;
Humans;
Light;
Metabolism;
Porphyrins;
Protoporphyria, Erythropoietic*;
Skin
- From:Korean Journal of Dermatology
2000;38(10):1375-1379
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Erythropoietic protoporphyria(EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell free protoporphyrin levels. We report herein a case of EPP which occurred in a 44-year-old man and his family. He had suffered from immediate photosensitivity since he was 4 years old. He was presented with burning, erythema, scars and waxy thickening of the sun-exposed skin. Red cell free protoporphyrin level was elevated and urinary porphyrins were normal. Histopathologically, homogeneous eosinophilic materials that stained with PAS were deposited in perivascular area of upper dermis. He was managed with light restriction and sunscreen.
