Erythropoietic protoporphyria |
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Alternate Names : Acute intermittent porphyria, Hereditary coproporphyria, Congenital erythropoietic porphyria, Erythropoietic protoporphyria
Definition ...
Erythropoietic Protoporphyria (EPP)
Symptoms may include:
Sun sensitivity
Redness or swelling, but usually no blisters
Itching or burning sensation
Long-term skin and nail changes
Gallstones ...
Erythropoietic protoporphyria
Again, symptoms are usually first noticed in childhood but they can occur for the first time at any age. There is burning, itching and redness of the skin on exposure to sunlight.
Erythropoietic Protoporphyria
EPP typically manifests in infancy with burning skin pain after even short exposure to sunlight. Gallstones are common later in life, and acute liver failure occurs in about 10%.
When erythropoietic protoporphyria is caused by mutations in the ALAS2 gene, it has an X-linked dominant pattern of inheritance. The ALAS2 gene is located on the X chromosome, which is one of the two sex chromosomes.
Symptoms of erythropoietic protoporphyria usually begin in childhood and include acute pain and swelling of the skin with exposure to light. There are no abdominal or neurological symptoms.
Erythropoietic Protoporphyria (1 images)
Erythrosis Interfollicularis Colli (5 images)
Exanthema Subitum (2 images)
Exostosis, Subungual (16 images)
Extraabdominal Fibromatosis (0 images)
Extramammary Paget's Disease (2 images) ...
Erythropoietic Protoporphyria
Erythropoietin stimulators - Medication
Escobar Syndrome
Esophageal Aperistalsis
Esophageal Atresia
Esophageal Atresia and/or Tracheoesophageal Fistula ...
Different types of acute porphyria include ‘acute intermittent porphyria' and ‘erythropoietic protoporphyria'.
Cutaneous porphyrias - the condition affects the skin but not the nervous system.
Alcohol, Data Analyses, Design, Program, Disease, Laryngeal, Dysarticulation Disorders, EAA Agents, Ependymoma, Erythema, Erythropoietic Protoporphyrias, Generalized Spasms, Gutta-Percha, Headaches, Chronic Daily, Hemorrhage, Cerebral Brain, ...
porphyria - caused by mutations in the ALAS2 gene At least two ALAS2 gene mutations have been found in people with a form of porphyria known as X-linked dominant erythropoietic protoporphyria.
People with erythropoietic protoporphyria, a rare genetic condition that causes painful sun sensitivity, as well as liver problems, are often treated with beta-carotene to reduce sun sensitivity.
AllRefer Health - Porphyria (Acute Intermittent Porphyria, Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria)
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ACUTE PORPHYRIA ...
Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria
Causes, incidence, and risk factors ...
What is Porphyrias?
Porphyrias, Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; and Erythropoietic protoporphyria.
Erythropoietic protoporphyria (EPP) or protoporphyria (See Porphyria)
Esophageal Cancer
Esophagectomy
Essential hypersomnia (See Idiopathic Hypersomnia)
Essential Thrombocythemia
Essential Tremor
Esthesioneuroblastoma ...
Erythrohepatic Protoporphyria
Erythrokeratodermia Congenitalis Progressiva Symmetrica, Gottron
Erythrokeratodermia with Ataxia
Erythrokeratolysis Hiemalis
Erythromelalgia
Erythropoietic Protoporphyria ...
Erythroderma Desquamativum of Infancy
Erythrogenesis Imperfecta
Erythrohepatic Protoporphyria
Erythrokeratodermia with Ataxia
Erythrokeratolysis Hiemalis
Erythromelalgia
Erythropoietic Protoporphyria
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 See also: Protoporphyria, Porphyria, Deficiency, Erythropoietic Porphyria, Porphyria cutanea tarda
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