Porphyria cutanea tarda and haemochromatosis: a family study.
A female patient aged 73 presented with a history of general malaise and hyperpigmentation. Iron studies in the patient and immediate family members indicated that the proband was homozygous for haemochromatosis, but subsequent investigations revealed that porphyria cutanea tarda was responsible for her signs and symptoms. Venesection of four units of blood brought her symptoms under control. The interplay between porphyria cutanea tarda and excess iron deposition is discussed as is the role of extending investigations to first and second degree relatives when either haemochromatosis or porphyria cutanea tarda is suspected.
Seymour
D G
DG
University of Wales College of Medicine, University Hospital of Wales, Heath Park, Cardiff.
Elder
G H
GH
Fryer
A
A
Jacobs
A
A
Williams
G T
GT
D000368:Aged; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*