erythropoietic protoporphyria


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Related to erythropoietic protoporphyria: erythropoietic porphyria

protoporphyria

 [pro″to-por-fir´e-ah]
erythropoietic protoporphyria (EPP) an autosomal dominant disorder, a form of erythropoietic porphyria, characterized by increased levels of protoporphyrin in the erythrocytes, plasma, liver, and feces and a wide variety of photosensitive skin changes, ranging from a burning or pruritic sensation to erythema, plaquelike edema, and wheals.

e·ryth·ro·poi·et·ic pro·to·por·phyr·i·a

[MIM*177000]
a benign disorder of porphyrin metabolism due to a deficiency of ferrochelatase associated with enhanced fecal excretion of protoporphyrin, red-purple urine, and increased protoporphyrin IX in red blood cells, plasma, and feces; characterized by acute solar urticaria or more chronic solar eczema develops quickly on exposure to sunlight; autosomal dominant inheritance.

erythropoietic protoporphyria (EPP)

an autosomal-dominant disorder, a form of erythropoietic porphyria, characterized by increased levels of protoporphyrin in the erythrocytes, plasma, liver, and feces and a wide variety of photosensitive skin changes, ranging from a burning or pruritic sensation to erythema, plaquelike edema, and wheals.

e·ryth·ro·poi·et·ic pro·to·por·phy·ria

(ĕ-rith'rō-poy-et'ik prō'tō-pōr-fir'ē-ă)
A benign disorder of porphyrin metabolism due to a deficiency of ferrochelatase and characterized by enhanced fecal excretion of protoporphyrin and increased protoporphyrin IX in red blood cells, plasma, and feces; solar urticaria or eczema develops on exposure to sunlight.

erythropoietic protoporphyria

A dominant genetic disease caused by a deficiency of the enzyme ferrochelatase that leads to the accumulation of protoporphyrin in the red blood cells. This causes skin hypersensitivity to light with tissue damage from oxygen free radicals causing a red crusted rash. About one sufferer in 20 develops liver failure for which the only resource is transplant. Although the condition is dominant, penetrance is incomplete and the inheritance more closely resembles that of a recessive trait.

erythropoietic

emanating from or pertaining to erythropoiesis.

erythropoietic porphyria
porphyria of genetic origin; a manifestation of involvement of erythropoietic tissue.
erythropoietic protoporphyria
protoporphyria of genetic origin in which the defect in porphyrin metabolism is in the erythropoietic tissue. In the bovine disease the deficiency is of heme synthetase (ferrochelatase).
References in periodicals archive ?
The active treatment also markedly improved every aspect of patients' quality of life, as measured by the Erythropoietic Protoporphyria Quality-of-Life questionnaire.
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
The UK Erythropoietic Protoporphyria register: a progress report.
b-carotene as an oral photoprotective agent in erythropoietic protoporphyria.
Examples include albinism, congenital adrenal hyperplasia, erythropoietic protoporphyria, Fabry's disease, familial basal ganglia calcification, G6PD deficiency, Gaucher's disease, hemochromatosis, Huntington's chorea, hyperasparaginism, ichthyosis vulgaris, Kartagener's syndrome, Klinefelter's syndrome (karyotype 47,XXY), metachromatic leukodystrophy, Niemann-Pick disease, phenylketonuria, acute intermittent porphyria, Turner's syndrome, and Wilson's disease.
A skin biopsy showed cuffs of hyaline material around the superficial blood vessels in the upper dermis, suggesting a diagnosis of erythropoietic protoporphyria (EPP).
Orally-administered beta carotene has even been used in high doses by people with erythropoietic protoporphyria (EPP), a genetic condition causing the skin to be overly sensitive to sunlight.
Erythropoietic protoporphyria patients can develop cholestasis, severe hepatic damage, fibrosis, and cirrhosis.
3] Oral supplementation with beta-carotene (180 mg/day) is now part of a widely used treatment protocol for erythropoietic protoporphyria.
The six-month, randomised, multicentre, double-blind, placebo-controlled US study (CUV030) was primarily designed to confirm the efficacy and safety of subcutaneous bioresorbable afamelanotide implants (SCENESSE[R]) in reducing the severity of phototoxic skin reactions in patients with the rare light intolerance disorder erythropoietic protoporphyria (EPP), allowing them to lead 'more normal' lives.

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