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Sporadic porphyria cutanea tarda due to haemochromatosis.
Neth J Med. 2006 Sep; 64(8):307-9.NJ

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+Show Affiliations

Department of Intensive Care, Erasmus Medical Centre, Rotterdam, the Netherlands. geushrhde@yahoo.comNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16990695

Citation

de Geus, H R H., and A Dees. "Sporadic Porphyria Cutanea Tarda Due to Haemochromatosis." The Netherlands Journal of Medicine, vol. 64, no. 8, 2006, pp. 307-9.
de Geus HR, Dees A. Sporadic porphyria cutanea tarda due to haemochromatosis. Neth J Med. 2006;64(8):307-9.
de Geus, H. R., & Dees, A. (2006). Sporadic porphyria cutanea tarda due to haemochromatosis. The Netherlands Journal of Medicine, 64(8), 307-9.
de Geus HR, Dees A. Sporadic Porphyria Cutanea Tarda Due to Haemochromatosis. Neth J Med. 2006;64(8):307-9. PubMed PMID: 16990695.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sporadic porphyria cutanea tarda due to haemochromatosis. AU - de Geus,H R H, AU - Dees,A, PY - 2006/9/23/pubmed PY - 2006/11/1/medline PY - 2006/9/23/entrez SP - 307 EP - 9 JF - The Netherlands journal of medicine JO - Neth J Med VL - 64 IS - 8 N2 - 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. SN - 0300-2977 UR - https://www.unboundmedicine.com/medline/citation/16990695/Sporadic_porphyria_cutanea_tarda_due_to_haemochromatosis_ L2 - http://www.njmonline.nl/njm/getarticle.php?v=64&i=8&p=307 DB - PRIME DP - Unbound Medicine ER -