The active treatment also markedly improved every aspect of patients' quality of life, as measured by the Erythropoietic Protoporphyria
Herrero, "Liver disease in erythropoietic protoporphyria
," GastroenterologiayHepatologia, vol.
without skin symptoms--you do not always see what they feel.
 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
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
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