The active treatment also markedly improved every aspect of patients' quality of life, as measured by the Erythropoietic Protoporphyria
This South African family, and several others in Europe, were shown to have a novel disease now termed X-linked 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
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
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.