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.

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.
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.
Herrero, "Liver disease in erythropoietic protoporphyria," GastroenterologiayHepatologia, vol.
Erythropoietic protoporphyria without skin symptoms--you do not always see what they feel.
[7] Nonstandard abbreviations: EPNET, European Porphyria Network; ALA, [delta]-aminolevulinic acid; PBG, porphobilinogen; EQAS, external quality assessment scheme; [TE.sub.a], total allowable error; EPP, erythropoietic protoporphyria; PCT, porphyria cutanea tarda; PBGD, porphobilinogen deaminase; UROD, uroporphyrinogen decarboxylase; AIP, acute intermittent porphyria; VP, variegate porphyria; HCP, hereditary coproporphyria; CIII:I, coproporphyrin isomer III:I.
Predictable and unpredictable hazards of erythropoietic protoporphyria. Clin Exp Dermatol 1991; 16: 185-187
GOTHENBURG, SWEDEN -- A resorbable subcutaneous implant of afamelanotide significantly reduced painful phototoxic attacks in patients with erythropoietic protoporphyria in a year-long multinational clinical trial.
Clinuvel Pharmaceuticals achieved positive results from a Phase III trial of Scenesse in patients with erythropoietic protoporphyria (EPP), showing that the drug has the ability to reduce and prevent painful phototoxic reactions.
Tia's incurable condition was noticed at one -though doctors disagreed on a diagnosis before she was found to have rare erythropoietic protoporphyria (EPP).
Results released today from a Phase III trial of the drug SCENESSE (R), conducted by Melbourne-based Clinuvel Pharmaceuticals Limited (ASX:CUV) (PINK:CLVLY), have shown that the drug has the ability to reduce and prevent painful phototoxic reactions experienced by patients with erythropoietic protoporphyria (EPP).
Beta-carotene as a protective agent in erythropoietic protoporphyria. New Eng J Med 1970;282:1231-4.
Many genetically transmitted medical disorders can manifest with psychotic symptoms but are never labeled "psychotic disorders." 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).

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