PCT

Symptoms

The most common symptoms are fragility and blistering of light-exposed areas of the skin—especially the backs of the hands, the lower arms and the face. Patients often report that their skin is unusually fragile, so small bumps or knocks can scrape away the upper layer of the skin or cause a blister. The blisters contain fluid, rupture easily, crust over and then heal slowly. Skin infections, scarring and changes in coloration may result. Small white spots called "milia" are commonly found on the hands and fingers.

Another feature which is often seen is excessive growth of facial hair. The reason for this is not at present understood, but once is the disease is under control, the hair can usually be easily and effectively removed by conventional methods. Some patients develop severe scarring and thickening of the skin, which is referred to as "pseudoscleroderma".

PCT is accompanied by some degree of liver damage. This is often mild or moderate. But over time there is a risk of developing cirrhosis and even liver cancer. Liver damage in PCT may be due in part to the excess porphyrins, which accumulate in very large amounts particularly in the liver. But other factors, such as alcohol, hepatitis C and excess iron, can be important causes of liver damage.

Neurological symptoms, which are common in acute porphyrias, such as pain in the abdomen and extremities, are not features of PCT.