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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 / 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]
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]
Nearly all cases of porphyria cutanea tarda [18] exhibit blister formation on the skin within 2–4 days of light exposure. Variegate porphyria [19] and hereditary coproporphyria [20] can also exhibit symptoms of light-induced blisters. [18]
Porphyria cutanea tarda; Primary cutaneous amyloidosis; Primary systemic amyloidosis; Prolidase deficiency; Pseudoporphyria (pseudoporphyria cutanea tarda) Sanfilippo syndrome; Scheie syndrome (mucopolysaccharidosis type I S) Secondary cutaneous amyloidosis; Secondary systemic amyloidosis; Sialidosis; Sly syndrome (mucopolysaccharidosis type VII)
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 ...
Variegate porphyria, also known by several other names, is an autosomal dominant porphyria [3] that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production.
Although fewer than 100 cases are documented in English language literature, pseudoporphyria is most likely underreported in the literature because it is only a symptom of some other condition, e.g. side effect of medicine or symptom of liver problems. As the symptoms of pseudoporhphyra have other names, those symptoms are mentioned.