Each porphyria is characterised by a specific enzyme defect with altered patterns of synthesis and excretion of porphyrins which accumulate and are linked to clinical manifestations. The name porphyria describes not the diseases, but the lustrous purple-red crystalline porphyrins, they are named from the Greek, porphuros or purple. Types of non-acute porphyrias Congenital erythropoietic porphyria Erythropoietic protoporphyria Porphyria cutanea tarda 1 Congenital erythropoietic porphyria Otherwise known as Gunther's disease, it is fortunately very rare. Both sexes are equally affected.
Symptoms usually start in the first few years of life.
Dystrophic nails may curl up and drop off. Lenticular scarring may lead to blindness. Teeth become brownish-pink due to their porphyrin content. Patients often have haemolytic anaemia, and splenomegaly may co-exist. 2 Erythropoietic protoporphyria More common than congenital erythropoietic porphyria, it can occur at any age, including infancy and childhood.