Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing.

Abstract

The porphyrias are a group of inherited disorders that result in defects in the enzymes of the haem biosynthetic pathway, causing photosensitive bullous skin eruptions or abdominal and neurological attacks. Enzymatic defects result in specific porphyrin excretory patterns that are diagnosed biochemically and can be confirmed by genetic testing. Defects in the coproporphyrinogen oxidase (CPOX) enzyme result in the autosomal dominant hereditary coproporphyria. Multiple mutations have been identified in the CPOX gene and incomplete penetrance is noted. Latent carriers without clinical evidence of disease are at risk of life-threatening attacks. Porphyria cutanea tarda may be inherited, but is more commonly acquired. Occasionally two forms of porphyria may co-exist. The importance of genetic testing is discussed.

• Authors: Alice Rudd, Janine Grant, George Varigos, Vanessa Morgan, Ingrid Winship
• Journal: The Australasian journal of dermatology (Australas J Dermatol) Vol. 54 Issue 2 Pg. e50-2 (May 2013) ISSN: 1440-0960 [Electronic] Australia
• PMID: 23582006 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2012 The Authors; Australasian Journal of Dermatology © 2012 The Australasian College of Dermatologists.

Chemical References

• Porphyrins
• Coproporphyrinogen Oxidase

Topics

• Adult
• Coproporphyria, Hereditary (complications, drug therapy, genetics)
• Coproporphyrinogen Oxidase (genetics)
• Feces (chemistry)
• Female
• Genetic Testing
• Heterozygote
• Humans
• Male
• Mutation
• Porphyria Cutanea Tarda (complications, genetics)
• Porphyrins (analysis, blood, urine)