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Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria , as symptoms are rapid in onset and short in duration. [ 1 ]
Porphyria cutanea tarda is the most common subtype of porphyria. [1] 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.
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
Günther disease is a congenital form of erythropoietic porphyria.The word porphyria originated from the Greek word porphura. Porphura actually means "purple pigment", which, in suggestion, the color that the body fluid changes when a person has Gunther's disease. [3]
Merkel cell carcinoma (MCC) is a rare and aggressive skin cancer occurring in about three people per million members of the population. [1] It is also known as cutaneous APUDoma, primary neuroendocrine carcinoma of the skin, primary small cell carcinoma of the skin, and trabecular carcinoma of the skin. [2]
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Variegate porphyria has an autosomal dominant pattern of inheritance. Mutations in the PPOX gene cause variegate porphyria. [4] The PPOX gene makes a membrane bound mitochondrial enzyme called protoporphyrinogen oxidase, which is critical to the chemical process that leads to heme production. The activity of this enzyme is reduced by 50 percent ...
Carcinogenic parasites are parasitic organisms that depend on other organisms (called hosts) for their survival, and cause cancer in such hosts.Three species of flukes are medically-proven carcinogenic parasites, namely the urinary blood fluke (Schistosoma haematobium), the Southeast Asian liver fluke (Opisthorchis viverrini) and the Chinese liver fluke (Clonorchis sinensis).