Abstract
The porphyrias are a group of disorders caused by deficient activity of the enzymes responsible for the biosynthesis of haem. The skin is one of the major organs involved in most of these diseases because the porphyrins which accumulate are phototoxic.
The common cutaneous porphyrias are variegate porphyria, porphyria cutanea tarda, congenital erythropoietic porphyria and erythropoietic protoporphyria, each caused by a different enzyme deficiency causing a distinctive pattern of porphyrin accumulation and typical clinical features.
The genes encoding these enzymes have all been cloned recently, enabling the genetic defects underlying these disorders to be elucidated.
The factors triggering sporadic porphyria cutanea tarda in predisposed individuals are now becoming clear: hepatic iron overload is required to induce the hepatic enzyme defect and many patients are haemochromatosis gene carriers. Hepatitis B, C, and HIV virus infection also contribute to disease expression.
In erythropoietic protoporphyria, up to 5% of patients develop liver failure. It is now clear that some of these patients suffer from a different recessively transmitted form of the disease: this finding may make it possible to identify these patients at an earlier stage.
Gene therapy holds particular promise as a future therapy and has successfully been used to correct enzyme defects in vitro. Bone marrow transplantation has also been tried in patients with congenital erythropoietic porphyria.
The joints are not involved by porphyria. However, some non-steroidal inflammatory drugs prescribed by rheumatologists have phototoxic properties similar to uroporphyrin. These drugs cause a syndrome clinically and histologically indistinguishable from porphyria cutanea tarda which is known as pseudoporphyria.
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References
Warren MJ, Jay M Hunt DM. ‘The maddening business of King George III and porphyria.’ Trends Biochem Sci 21: 229–34 (1996)
Meyer-Betz F. ’Untersuchungen über die biologische (photodynamische) Wirkung des Hämatoporphyrins und anderer Derivate des Blut-und Gallenfarbstoffs.’ Deutsch Arch Klin Med 112: 476–503 (1913).
Roberts AG, Whatley SD, Morgan RR et al. ‘Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.’ Lancet 349: 321–23 (1997)
Santos M, Clevers HC, Marx JJM. ‘Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda.’ New Engl J Med 336: 1327–8 (1997)
Blauvelt A. ‘Hepatitis C virus and human immunodeficiency virus infection can alter porphyrin metabolism and lead to porphyria cutanea tarda.’ Arch Dermatol 132: 1503–4 (1996) (Editorial)
Cribier B, Rey D, Uhl G et al. ‘Abnormal urinary coproporphyrin levels in patients infected by hepatitis C virus with or without human imunodeficiency virus.’ Arch Dermatol 132: 1448–52 (1996)
Magnus IA, Jarrett A, Prankerd TAJ, Rimington C. ‘Erythropoietic protoporphria: a new porphyria syndrome with solar urticaria due to protoporphyrinaemia.’ Lancet 2: 448–51(1961).
Sarkany RPE, Alexander GJMA, Cox TM. ‘Recessive inheritance of Erythropoietic Protoporphyria with liver failure.’ Lancet 343: 1394–1396 (1994)
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© 1999 Springer Science+Business Media New York
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Sarkany, R.P.E. (1999). Porphyria. In: Mallia, C., Uitto, J. (eds) Rheumaderm. Advances in Experimental Medicine and Biology, vol 455. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4857-7_34
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DOI: https://doi.org/10.1007/978-1-4615-4857-7_34
Publisher Name: Springer, Boston, MA
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