| Title | Primary hemochromatosis presented by porphyria cutanea tarda: a case report. | | Author(s) | Bovenschen HJ, Vissers WH | | Institution | Department of Dermatology, Radboud University Nijmegen Medical Center René Descartes dreef 1, P.O Box 9101, 6525 GL, Nijmegen The Netherlands. | | Source | Cases J 2009.:7246. | | Abstract | We present a 27-year-old female Caucasian patient, who initially presented with extensive fragility and blistering of mainly the dorsal side of both hands. Histology and urine porphyrin analysis confirmed the diagnosis of porphyria cutanea tarda. Internal screening for underlying disease revealed C282Y mutation-associated primary hemochromatosis, a hereditary iron-overload syndrome that may cause toxicity of a variety of organs. Hemochromatosis and porphyria cutanea tarda are pathogenetically linked as iron interferes with heme synthesis pathway. Patient was successfully treated with phlebotomy and low-dose hydroxychloroquine. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 19829938 |
|
