An Irish family with variegate porphyria

Abstract

Summary Eight members of a large Irish family had clinical or biochemical evidence of variegate porphyria. Only four members had the characteristic cutaneous changes. These findings support previous reports that carriers of the gene may be clinically latent, particularly in temperate climates. The occasional carrier who is clinically and biochemically normal also occurs. Variegate porphyria is a dominantly inherited disorder, presenting with cutaneous, abdominal and neuropsychiatric symptoms. The diagnosis is confirmed by the presence of large quantities of protoporphyrin and of coproporphyrin to a lesser degree in the faeces. South African case reports of porphyria variegate predominate (Dean, 1971). The disease commonly presents with cutaneous changes in that country (Eales & Dowdle, 1968). In Finland skin changes were mild and were never a presenting sign of the disease (Mustajoki, 1978). We would like to report the cutaneous changes in the following Irish family.