[Association of idiopathic hemochromatosis and tardive cutaneous porphyria]. 1991

M Buysschaert, and L Verstraeten, and V Novik, and A Brasseur, and J Donckier, and A Hassoun
Département de Médecine Interne, Cliniques Universitaires UCL de Mont-Godinne, Yvoir.

Porphyria cutanea tarda is a disorder of porphyrin metabolism that results from a deficiency of uroporphyrinogen decarboxylase, resulting in a characteristic pattern of porphyrin excretion. Elevated serum iron values are frequently observed among patients with porphyria cutanea tarda. The hypothesis has been advanced that a hemochromatosis allele is implicated in the clinical manifestation of porphyria cutanea tarda. We report the case of a patient suffering from both idiopathic hemochromatosis and porphyria cutanea tarda. The data of the medical literature concerning such an association are discussed.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D011164 Porphyrias A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders
D005260 Female Females
D006432 Hemochromatosis A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) Diabetes, Bronze,Bronze Diabetes,Bronzed Cirrhosis,Familial Hemochromatosis,Genetic Hemochromatosis,Haemochromatosis,Hemochromatoses,Iron Storage Disorder,Pigmentary Cirrhosis,Primary Hemochromatosis,Troisier-Hanot-Chauffard Syndrome,Von Recklenhausen-Applebaum Disease,Bronzed Cirrhoses,Cirrhoses, Bronzed,Cirrhoses, Pigmentary,Cirrhosis, Bronzed,Cirrhosis, Pigmentary,Disease, Von Recklenhausen-Applebaum,Diseases, Von Recklenhausen-Applebaum,Disorder, Iron Storage,Disorders, Iron Storage,Familial Hemochromatoses,Genetic Hemochromatoses,Haemochromatoses,Hemochromatose,Hemochromatoses, Familial,Hemochromatoses, Genetic,Hemochromatosis, Familial,Hemochromatosis, Genetic,Iron Storage Disorders,Pigmentary Cirrhoses,Recklenhausen-Applebaum Disease, Von,Recklenhausen-Applebaum Diseases, Von,Storage Disorder, Iron,Storage Disorders, Iron,Syndrome, Troisier-Hanot-Chauffard,Syndromes, Troisier-Hanot-Chauffard,Troisier Hanot Chauffard Syndrome,Troisier-Hanot-Chauffard Syndromes,Von Recklenhausen Applebaum Disease,Von Recklenhausen-Applebaum Diseases
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012871 Skin Diseases Diseases involving the DERMIS or EPIDERMIS. Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease
D014578 Uroporphyrins Porphyrins with four acetic acid and four propionic acid side chains attached to the pyrrole rings.

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