title: Sporadic porphyria cutanea tarda due to haemochromatosis.
abstract: Haemochromatosis is a hereditary iron-overload syndrome caused by increased intestinal iron absorption and characterised by accumulation of potentially toxic iron in the tissues. Sometimes this disease presents as a cutanea porphyria. We describe a patient with joint complaints and blistering skin lesions on sun-exposed skin. After identifying the porphyria cutanea tarda by urine analysis we found that the serum activity of uroporphyrinogen decarboxylase (UROD) was normal, meaning a partial inactivation of UROD in liver tissue due to external factors. Further investigation showed the homozygous Cys282Tyr missense mutation and high levels of serum ferritin. It is important to recognise the symptoms of iron overloading at an early stage because hereditary haemochromatosis needs to be treated immediately. We therefore advocate routine sampling of ferritin levels in patients with unexplained joint complaints.
authors.affiliation: Department of Intensive Care, Erasmus Medical Centre, Rotterdam, the Netherlands. geushrhde@yahoo.com
authors.forename: H R H
authors.initials: HR
authors.lastname: de Geus
authors.forename: A
authors.initials: A
authors.lastname: Dees
mesh_terms: D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000097:blood / Q000150:complications* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense; D017119:Porphyria Cutanea Tarda / Q000097:blood / Q000175:diagnosis / Q000209:etiology*; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA; D005293:Ferritins; D014575:Uroporphyrinogen Decarboxylase