What is the cause of porphyria cutanea tarda?

PCT is a cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which helps convert porphyrins into heme. Symptoms usually occur when levels of UROD drop to around 20% of normal levels. An accumulation of iron in the blood can also be a contributing factor.

What is a usual presentation of porphyria cutanea tarda?

The most common presenting sign of porphyria cutanea tarda is fragility of sun-exposed skin after mechanical trauma, leading to erosions and bullae, typically on hands and forearms and occasionally on face or feet.

What are the symptoms of porphyria cutanea tarda?

Common symptoms include:

  • blisters on skin that’s exposed to the sun, including the hands, face, and arms.
  • photosensitivity, which means your skin is sensitive to the sun.
  • thin or fragile skin.
  • increased hair growth, usually on the face.
  • crusting and scarring of the skin.
  • redness, swelling, or itching of the skin.

How do you treat porphyria cutanea tarda?

The standard treatment of individuals with PCT is regularly scheduled phlebotomies to reduce iron and porphyrin levels in the liver. This is the preferred treatment of affected individuals at many porphyria centers regardless of whether there is confirmed iron overload.

How is porphyria cutanea tarda diagnosis?

To diagnose porphyria cutanea tarda, doctors test blood, urine, and stool for unusually high levels of porphyrins. The specific porphyrins that are increased provide a pattern that allows doctors to distinguish porphyria cutanea tarda from other porphyrias.

Is porphyria cutanea tarda a liver disease?

Porphyria cutanea tarda is a rare condition of the liver but it must be remembered in a differential diagnosis of liver disease with typical skin involvement to decrease morbidity and health costs with early treatment.

Is porphyria cutanea tarda autoimmune disease?

The aetiology of porphyria cutanea tarda (PCT) has not been elucidated, but the possibility of an autoimmune mechanism has been proposed. We report a case of an unknown clinical combination of PCT with autoimmune hypothyroidism, alopecia universalis and vitiligo with thyroid and parietal cell circulating antibodies.

Is porphyria cutanea tarda an autoimmune disease?

How is porphyria cutanea tarda diagnosed?

Is porphyria cutanea tarda curable?

PCT is the most treatable form of Porphyria and treatment appears equally effective for both the sporadic and familial forms. The standard treatment of individuals with PCT is regularly scheduled phlebotomies to reduce iron and porphyrin levels in the liver.