title: 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.affiliation: Departments of Dermatology and Biochemistry, Private Medical Centre, Department of Genetic Medicine, The Royal Melbourne Hospital, and Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia. alice_rudd@hotmail.com
authors.forename: Alice
authors.initials: A
authors.lastname: Rudd
authors.forename: Janine
authors.initials: J
authors.lastname: Grant
authors.forename: George
authors.initials: G
authors.lastname: Varigos
authors.forename: Vanessa
authors.initials: V
authors.lastname: Morgan
authors.forename: Ingrid
authors.initials: I
authors.lastname: Winship
mesh_terms: D000328:Adult; D046349:Coproporphyria, Hereditary / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D003304:Coproporphyrinogen Oxidase / Q000235:genetics*; D005243:Feces / Q000737:chemistry; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D017119:Porphyria Cutanea Tarda / Q000150:complications / Q000235:genetics*; D011166:Porphyrins / Q000032:analysis / Q000097:blood / Q000652:urine
chemical_list: D011166:Porphyrins; D003304:Coproporphyrinogen Oxidase