Molecular genetics of erythropoietic protoporphyria
نویسندگان
چکیده
منابع مشابه
Erythropoietic protoporphyria
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with prevalence between 1:75,000 and 1:200,000. It usually manifests in early infancy upon the first sun exposures. EPP is characterised by...
متن کاملAfamelanotide for Erythropoietic Protoporphyria.
BACKGROUND Erythropoietic protoporphyria is a severe photodermatosis that is associated with acute phototoxicity. Patients with this condition have excruciating pain and a markedly reduced quality of life. We evaluated the safety and efficacy of an α-melanocyte-stimulating hormone analogue, afamelanotide, to decrease pain and improve quality of life. METHODS We conducted two multicenter, rand...
متن کاملA case of erythropoietic protoporphyria.
A 39-year old Malay male presented with a history of photosensitivity following exposure to sunlight. The skin became itchy for about 20 minutes and was followed by blister formation. The affected skin subsequently showed signs of peeling off. He has had similar experience since the age of 12 years and has learned to avoid unnecessary exposure to sunlight since then. Examination showed areas of...
متن کاملA case of erythropoietic protoporphyria.
A 53-year-old Texas rancher developed a blistering skin rash that was sensitive to exposure to sunlight. He was referred to hematology with a presumptive diagnosis of porphyria. His peripheral blood counts were within normal limits, and a bone marrow examination revealed erythroid dyspoiesis and ringed sideroblasts. Serum, plasma, and erythrocyte protoporphyrin levels were elevated, the finding...
متن کاملThe difficult clinical diagnosis of erythropoietic protoporphyria.
We give a short survey of the Swedish erythropoietic protoporphyria patients (EPP) with respect to the lapsed time between symptom debut and diagnosis. With two examples we illustrate the consequence of undiagnosed EPP for the patient and also the family. We recall efforts to spread information among health workers in order to investigate patients suffering from extreme sun-exposure intolerance...
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ژورنال
عنوان ژورنال: Photodermatology, Photoimmunology & Photomedicine
سال: 1998
ISSN: 0905-4383,1600-0781
DOI: 10.1111/j.1600-0781.1998.tb00015.x