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Photomutilation in Homozygous Variegate Porphyria

In addition to the acute blisters and erosions and the chronic milia, scarring and pigmentary changes of porphyria, these hands show severe deformities. The fingers are greatly shortened. Some of the bone loss underlying this may be due to light-induced damage ( photomutilation), but we suspect that severe haem deficiency  may also lead to failure of growth of bones.

Such severe disease is not a feature of heterozygous patients with variegate porphyria (VP), or the usual patient with porphyria cutanea tarda (PCT). It is for practical purposes encountered only in those with homozygous.

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