Variegate Porphyria

Variegate porphyria is an autosomal dominant disorder which is considered to be less common than acute intermittent porphyria in the U.S. The disorder has either cutaneous or neurological manifestations or both. In areas exposed to sunlight there is increased fragility of the skin with bullae formation, erosions, and scarring. Chronic skin thickening and facial hypertrichosis may also occur. The acute attacks of neurological dysfunction present the same as the manifestations described in acute intermittent porphyria. The distinction of acute intermittent porphyria, coproporphyria, and variegate porphyria is not critical to care since prophylaxis and treatment of the acute attack are managed the same.

Laboratory findings. During acute attacks the excretion of urinary ALA and PBG is increased. When asymptomatic or with cutaneous lesions only an increase in uroporphyrin and coproporphyrin may be noted and can be confused with the findings of porphyria cutanea tarda. The increase in fecal protoporphyrin seen in both acute and asymptomatic periods allows the differentiation of the two disorders.

Treatment. Management of these patients is the same as for acute intermittent porphyria. The treatment of the cutaneous manifestations may be difficult and beta carotene therapy which is used in protoporphyria is not effective.