protoporphyria


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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.

pro·to·por·phyr·i·a

(prō'tō-pōr-fir'ē-ă),
Enhanced fecal excretion of protoporphyrin.

protoporphyria

/pro·to·por·phyr·ia/ (prōt″o-por-fēr´e-ah) erythropoietic p.
erythropoietic protoporphyria  (EPP) a form of erythropoietic porphyria marked by excessive protoporphyrin in erythrocytes, plasma, liver, and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, plaquelike edema, and wheals.

protoporphyria

[prō′tōpôrfir′ē·ə]
Etymology: Gk, protos + porphyros, purple, haima, blood
increased levels of protoporphyrin in the blood and feces.
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Erythropoietic protoporphyria

pro·to·por·phyr·i·a

(prō'tō-pōr-fir'ē-ă)
Enhanced fecal excretion of protoporphyrin.

protoporphyria

porphyria marked by excessive protoporphyrin in the erythrocytes, plasma and feces. The excess is due to a deficiency of the enzyme ferrochelatase and an increased formation of the protoporphyrin. The disease occurs in cattle and is similar to congenital erythropoietic porphyria but less severe with the only clinical abnormality being photosensitive dermatitis. The defect is inherited as a dominant 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.
This South African family, and several others in Europe, were shown to have a novel disease now termed X-linked protoporphyria.
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.
The UK Erythropoietic Protoporphyria register: a progress report.
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).
The breast cancer resistance protein protects against a major chlorophyll-derived dietary phototoxin and protoporphyria.
Loss of hereditary uterine protoporphyria through chromosomal rearrangement in mutant Rhode Island Red hens.
Beta-carotene as a protective 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.
Classification and main clinical features of the porphyrias [Taken from: Kauppinen, 2005] Type of Main Clinical Porphyria Symptoms Acute Porphyrias Acute Intermittent Porphyria Acute Attacks Hereditary Coproporphyria Acute attacks and skin fragility Variegate Porphyria Acute attacks and skin fragility Aminolevulinate Acute attacks and/or Dehydratase peripheral neuropathy Deficiency Porphyria Non Acute Porphyrias Congenital Erythropoietic Severe photosensitivity Porphyria and haemolysis Erythropoietic Photosensitivity Protoporphyria and liver damage Porphyria Cutanea Tarda Skin fragility and chronic liver disease Table 2.
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.