Erythropoietic protoporphyria presenting in an adult.
Erythropoietic protoporphyria is an inherited disorder of porphyrin metabolism, in which reduced activity of the enzyme ferrochelatase leads to accumulation of protoporphyrins in erythrocytes. Protoporphyrins are photoactivated by ultra-violet light causing tissue damage by release of free oxygen radicals, which manifests as photosensitivity. The majority of cases of erythropoietic protoporphyria present in childhood although sometimes symptoms are delayed until the second decade. We report here a case presenting in adulthood and discuss the risk of liver disease in the condition.
Henderson
C A
CA
Department of Dermatology, Walsgrave Hospital, Coventry, UK.
Jones
S
S
Elder
G
G
Ilchyshyn
A
A
D000328:Adult; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology; D008297:Male; D010787:Photosensitivity Disorders / Q000209:etiology*; D017121:Porphyria, Hepatoerythropoietic / Q000150:complications*