porphyria cutanea tarda
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Home Disease Index Porphyria cutanea tarda

 


Overview

Causes
Symptoms
Risk Factor

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Overview

 


The porphyrias are a group of diseases in which there is a defect somewhere in the complex chain of chemical steps that are required for the synthesis of the molecule known as haem.

Haem is one of a group of compounds called porphyrias and is an iron-containing molecule that combines with the protein globin to form haemoglobin.

Haemoglobin is present within the red cells of the blood and is responsible for combining with and transporting oxygen around the body. The two main sites in the body for haem synthesis are the bone marrow and the liver.

In porphyria cutanea tarda (PCT) this enzyme defect may be within the liver and, in some people, also in the red blood cells. The lack of this enzyme causes a build-up of porphyrins in the blood and skin. These react with light, making the skin fragile and easily blistered. Some people are born with the condition, but in the majority it appears later in life, having been caused by a toxin (such as some pesticides and fungicides) affecting the liver. Other contributing factors can be the intake of alcohol, iron supplements and oestrogen-containing medicines.

 




Causes

 

The skin, particularly on the backs of the hands and sometimes the face, becomes easily bruised and susceptible to fluid or blood-filled blisters. Scarring and small white skin cysts may develop. Occasionally, the affected skin becomes thick and hard.

The parts of the skin that are affected are those that are normally exposed to light. While occasionally sufferers notice that exposure to light causes their blisters, many others don't realise that light is the source of the problem. This is primarily because it is the visible wavelengths rather than the sunburn-causing ultraviolet light that are responsible. Because visible wavelengths are always present, even in the winter months, this is potentially a year-round condition.



Symptoms

 

 

 

 

Risk Factors

 

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