Definition of "porphyria"

The term porphyria, derived from the Greek word porphyra, meaning purple, is apt because a hallmark of most of the porphyrias is the overexcretion of porphyrins in urine or feces.

2000, Herbert L. Bonkovsky, Richard W. Lambrecht, “44: Hemochromatosis, iron overload, and porphyria cutanea tarda”, in James C. Barton, Corwin Q. Edwards, editors, Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment, page 453

However, the appearance of homozygous forms without consanguinity and coincidence of two types of porphyria in the same patient, dual porphyrias, is possible.

2003, M. Lecha, C. Herrero, D. Ozalla, “Porphyrias”, in Andreas D. Katsambas, Torello M. Lotti, editors, European Handbook of Dermatological Treatments, page 419

The usual presenting symptoms and signs of porphyrias are either skin photosensitivity or neurovisceral symptoms and signs.

2010, James C. Barton, Corwin Q. Edwards, Pradyumna D. Phatak, Robert S. Britton, Bruce R. Bacon, Handbook of Iron Overload Disorders, page 160