The Cutaneous Porphyrias
The porphyrias are a group of disorders caused by defects in the biosynthesis of haem. Their relevance to the skin arises from the phototoxic properties of the accumulated porphyrins.
The majority of the porphyrias are inherited. Many of them affect other organs as well as the skin. Some may cause dangerous acute attacks.
The porphyrias that commonly present to dermatologists are congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), porphyria cutanea tarda (PCT) and variegate porphyria (VP). Hereditary coproporphyria (HC) less commonly presents in the skin. Porphyrias present in the skin in three ways: mutilating photosensitivity (congenital erythropoietic porphyria), immediate painful photosensitivity (erythropoietic protoporphyria) or bullae and skin fragility (porphyria cutanea tarda, variegate porphyria). Diagnosis depends on laboratory analysis of body fluids for porphyrins by an experienced laboratory. Porphyria cutanea tarda is an acquired disease; the rest are hereditary. PCT is frequently caused by a variety of systemic and hepatological diseases. PCT and EPP may be complicated by liver disease; CEP has severe and multiple internal complications; VP can cause life-threatening acute attacks. Management involves visible light photoprotection for all the porphyrias. PCT is fully treatable by low-dose antimalarial drugs or venesection.
KeywordsPorphyria Porphyria cutanea tarda Protoporphyria Variegate Gunther’s Erythropoietic
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