Korean J Dermatol.  2000 Oct;38(10):1375-1379.

A Case of Erythropoietic Protoporphyria

• Lee DK
• Park JS
• Cho MK
• Son SJ
• Kim DJ

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.

Keyword

Erythropoietic protoporphyria; Free erythrocyte protoporphyrin

MeSH Terms

Adult
Burns
Child, Preschool
Cicatrix
Dermis
Eosinophils
Erythema
Ferrochelatase
Humans
Light
Metabolism
Porphyrins
Protoporphyria, Erythropoietic*
Skin
Ferrochelatase
Porphyrins