Disease Information for Hepatoerythropoetic porphyria

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Clinical Manifestations
Signs & Symptoms
Sun exposed areas/face, arms/involved
Blisters
Disfiguring/mutilating/scarring skin lesions
Photosensitivity/Sunsensitive skin
Skin sloughing/denuded/raw/oozing areas
Subepidermal Blisters
Sunburns too easily
Vesicobullous rashes
Vesicular rash
Dark urine
URINE Color Red
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Free erythrocyte protoporphrin/FEE test positive (Lab)
RBC Specific Enzyme assay abnormal (Lab)
Abnormal Lab Findings - Increased
Aminolevulinic acid/Delta-aminolevulinic acid level (Lab)
Hemoglobin (Lab)
Protoporphyrin RBC (Lab)
Protoporphyrin (Lab)
Zinc Protoporphyrin/RBC (Lab)
URINE Aminolevulinic acid/delta
URINE Deltalevulinic acid
URINE Porphyrins
URINE Protoporphyrin
STOOL Coproporphyrins
Diagnostic Test Results
Pathology
BX/Skin Caterpillar lesions/porphyria like
Associated Diseases & Rule outs
Associated Disease & Complications
Anemia
Hepatoerythropoetic porphyria
Photodermatosis
Photosensitivity dermatitis
Phototoxicity
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hepatic porphyria
Pathophysiology/Uroporphyrinogen decarboxylase deficit
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic porphyrin disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Photodermatosis (ex)
Synonyms
Synonym
Erythrohepatic Porphyria, Erythrohepatic Porphyrias, HEP, Hepatoerythropoietic Porphyria, Hepatoerythropoietic Porphyrias, Porphyria Erythrohepatic, Porphyria Hepatoerythropoietic, Porphyrias Erythrohepatic, Porphyrias Hepatoerythropoietic, Synonym/HEP disease
Treatment
Other Treatments
TX/Avoid sunlight exposure
TX/Phlebotomy.
Definition
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External Links Related to Hepatoerythropoetic porphyria
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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