Porphyria is a disease that has abnormality in heme formation then it is not made properly. The disease is inherited and rarely acquired.The congenital erythropoeitic porphyria (CEP) is the kind of autosomal recessive while the other porphyria shows an autosomal dominant treits. They manifest in accumulation and rise in porphyrins excretion and precursor. Some type of porphyria is the acute presentation such as acute intermittent, variegate, hereditary coproporphyria wherease some other have chronic presentation in congenital and erytropoeitec type.
The other type of porphyria is the porphyria cutanea tarda (PCT). It occurs usually by factors inhibiting the enzyme production such as iron, alcohol, hepatitis C virus (HCV), HIV, estrogens (such as those used in oral contraceptives and prostate cancer treatment), and possibly smoking, combine to cause an enzyme deficiency in the liver.The cutaneous porphyria is the type of porphyria that have skin problems. This type usually occurs in childhood. When it is exposed to sunlight, people with this disease will develop following sign and symptoms:
- Itching
- Painful skin redness (erythema)
- Skin swelling (edema)
- Blisters
- Red urine
