Porphyria cutanea tarda

Porphyria cutanea tarda is the most common subtype of porphyria. The disease is named because it is a porphyria that often presents with skin manifestations later in life. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.

Hepatoerythropoietic porphyria has been described as a homozygous form of porphyria cutanea tarda, although it can also be caused if two different mutations occur at the same locus.

Porphyria cutanea tarda (PCT) is a rare disorder characterized by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which leads to the buildup of porphyrins in the skin. This accumulation makes the skin extremely sensitive to sunlight, leading to blistering, scarring, and increased hair growth in sun-exposed areas. PCT can also manifest with liver abnormalities due to the buildup of porphyrins in the liver. Treatment typically involves avoiding sunlight, phlebotomy (removing blood to reduce iron levels), and medications to decrease porphyrin production.