variegate porphyria

porphyria /por·phy·ria/ (por-fēr´e-ah) any of a group of disturbances of porphyrin metabolism characterized by increase in formation and excretion of porphyrins or their precursors.

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acute intermittent porphyria  (AIP) hereditary hepatic porphyria due to a defect of pyrrole metabolism, with recurrent attacks of abdominal pain, gastrointestinal and neurologic disturbances, and excessive amounts of δ-aminolevulinic acid and porphobilinogen in the urine.

congenital erythropoietic porphyria  (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis.

porphyria cuta´nea tar´da  (PCT) a form characterized by cutaneous sensitivity that causes scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia; it is associated with reduced activity of an enzyme of heme synthesis.

erythropoietic porphyria  that in which excessive formation of porphyrin or its precursors occurs in bone marrow normoblasts, including congenital erythropoietic porphyria and erythropoietic protoporphyria.

hepatic porphyria  that in which the excess formation of porphyrin or its precursors occurs in the liver.

hepatoerythropoietic porphyria  (HEP) a severe form of porphyria cutanea tarda believed to result from a lack of activity of the enzyme catalyzing the conversion of uroporphyrinogen to coproporphyrinogen in the biosynthesis of heme.

variegate porphyria  (VP) a hereditary hepatic porphyria, with chronic skin manifestations, chiefly extreme mechanical fragility of the skin, mainly of areas exposed to sunlight, episodes of abdominal pain, neuropathy, and typically an excess of coproporphyrin and protoporphyrin in bile and feces.

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var·i·e·gate porphyria (vâr--gt)

n.

A hereditary disorder characterized by abdominal pain, neuropsychiatric abnormalities, dermal sensitivity to light and mechanical trauma, and increased fecal excretion of protoporphyrin and coproporphyrin.

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variegate porphyria (VP),

an uncommon form of hepatic porphyria, characterized by skin lesions and photosensitivity. The condition may be congenital or acquired. The congenital form is more serious, resulting in crises of acute abdominal pain and certain neurologic complications. See also porphyria.

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variegate porphyria

South African porphyria Metabolic disease An AD condition caused by protoporphyrinogen oxidase deficiency Clinical Abdominal pain, neuropsychiatric Sx, photosensitivity, increased sensitivity of skin to mechanical trauma Lab ↑ Protoporphyrin, coproporphyrin in stools; ↑ δ-aminolevulinic acid and porphobilinogen in urine