Porphyria Cuntanea Tarda (PCT)

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Porphpyria cuntanea tarda (PCT) is the most common type of porphyria. It is an autosomal dominant and the only porphyria that can result from environmental conditions.  It is estimated to have a frequency of 1:25,000-50,000. It usually occurs in adults,  especially men over the age of 35. Some cases also occur in children. PCT is a hepatic porphyria that affects the skin

Symptoms:

• The skin blisters after a trauma or exposure to sunlight. The blister that occurs on the exposed area might develop into a chronic ulcerating lesion.
• Healing is very slow and leaves pigmentation of the skin, milia and scaring. Usually on dorsal surfaces of hands and arms, sometimes on  the face.
• Increases hair growth and hyperpigmentation and  the darkening of the skin may also occur.

PCT does not affect the nervous system, only the liver and the skin. The acquired type is due to environmental factors. Exposure to toxic chemicals can lead to the disorder. Over accumulation of alcohol and estrogens found in oral contraceptives in the blood stream may also cause the disorder.  Another form of PCT is Hepatoerythropoietic Porphyria. So far only about 20 patients are known to have this disorder. In the inherited PCT, there is only one mutated gene, but in the hepatoerythropoietic porphyria there are two mutated genes.