PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jrsocmedLink to Publisher's site
 
J R Soc Med. 1995 August; 88(8): 476P–477P.
PMCID: PMC1295309

Erythropoietic protoporphyria presenting in an adult.

Abstract

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.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (476K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Fallon JD, Kvedar JC, Margolis RJ, Pathak MA. Erythropoietic protoporphyria presenting in adulthood. Arch Dermatol. 1989 Sep;125(9):1286–1287. [PubMed]
  • Murphy GM, Hawk JL, Magnus IA. Late-onset erythropoietic protoporphyria with unusual cutaneous features. Arch Dermatol. 1985 Oct;121(10):1309–1312. [PubMed]
  • DeLeo VA, Poh-Fitzpatrick M, Mathews-Roth M, Harber LC. Erythropoietic protoporphyria. 10 years experience. Am J Med. 1976 Jan;60(1):8–22. [PubMed]
  • Doss MO, Frank M. Hepatobiliary implications and complications in protoporphyria, a 20-year study. Clin Biochem. 1989 Jun;22(3):223–229. [PubMed]
  • Schmidt H, Snitker G, Thomsen K, Lintrup J. Erythropoietic protoporphyria. A clinical study based on 29 cases in 14 families. Arch Dermatol. 1974 Jul;110(1):58–64. [PubMed]
  • Lehmann P, Scharffetter K, Kind P, Goerz G. Erythropoetische Protoporphyrie: Synopsis von 20 Patienten. Hautarzt. 1991 Sep;42(9):570–574. [PubMed]
  • Norris PG, Nunn AV, Hawk JL, Cox TM. Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. J Invest Dermatol. 1990 Sep;95(3):260–263. [PubMed]

Articles from Journal of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press