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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.
Porphyria Cutanea Tarda (PCT): PCT is the most common form of porphyria, with an estimated prevalence of 1 to 2 cases per 10,000 individuals in the general population. It predominantly affects adults, with a higher prevalence in men than in women.
Variegate porphyria (mixed hepatic porphyria, mixed porphyria, South African genetic porphyria, South African porphyria) Verruciform xanthoma; Waxy skin; Wilson's disease (hepatolenticular degeneration) Xanthelasma palpebrarum (xanthelasma) Xanthoma diabeticorum; Xanthoma planum (plane xanthoma) Xanthoma striatum palmare; Xanthoma tendinosum ...
Variegate porphyria is inherited in an autosomal dominant pattern, which means the defective gene is located on an autosome, and inheriting one copy of the defective gene from an affected parent is sufficient to cause the disorder. More severe cases result from inheriting two copies of the defective gene.
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]
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]
"A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients". J. Invest. Dermatol. 104 (4): 500– 2. doi: 10.1111/1523-1747.ep12605953. PMID 7706766. Maruyama K, Sugano S (1994).
Porphyria cutanea tarda; V. Variegate porphyria; W. Watson–Schwartz test This page was last edited on 27 November 2020, at 02:14 (UTC). Text is available under ...