How would you describe porphyria?
Porphyria (por-FEAR-e-uh) refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissues.
What is pct disease?
General Discussion. Summary. Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected skin is fragile and may peel or blister after minor trauma. Liver abnormalities may also occur.
What is erythropoietic Protoporphyria?
Erythropoietic protoporphyria is one of a group of disorders known as the porphyrias. The porphyrias are all characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes essential to the synthesis of hemoglobin.
What does congenital erythropoietic porphyria ( CEP ) mean?
General Discussion. Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase (UROS), the fourth enzyme in the heme biosynthetic pathway.
Is the erythropoietic porphyria a recessive mutation?
Congenital Erythropoietic Porphyria is among the rarest type of several types of porphyria. It is also one of the few forms of porphyria that is inherited recessively (i.e., most are inherited as dominant mutations).
Which is the rarest type of porphyria in infants?
Summary Summary. Listen. Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands.
What are the different types of porphyria skin?
The cutaneous porphyrias [Porphyria Cutanea Tarda (PCT), Hepatoerythropoietic Porphyria (HEP), Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP), and X-linked protoporphyria (XLP), present with blistering and scarring of the skin, pain, and/or redness and swelling in sun-exposed areas.
General Discussion. Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase (UROS), the fourth enzyme in the heme biosynthetic pathway.
Summary Summary. Listen. Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands.
When do the symptoms of erythropoietic porphyrias begin?
As is characteristic of the erythropoietic Porphyrias, symptoms begin during infancy. Sometimes CEP is recognized as a cause of anemia in a fetus before birth. In less severe cases symptoms may begin during adult life. Porphyrins are markedly increased in bone marrow, red blood cells, plasma, urine and feces.
What’s the difference between acute and cutaneous porphyrias?
The former are called cutaneous porphyrias. The latter are called acute porphyrias. Because the symptoms of the various porphyrias may resemble symptoms of other disorders, diagnosis may be difficult. Each type of porphyria represents a deficiency of a specific enzyme needed for the synthesis of heme. Treatment is specific to the type of porphyria.