Disease Information for Erythropoetic protoporphyria variant

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Clinical Manifestations
Signs & Symptoms
Sun exposed areas/face, arms/involved
Red/erythema skin discoloration
Blebs/vesicles/skin
Bullous lesion/local
Cutaneous manifestations
Erythematous generalized rash
Hirsutism
Hypertrichosis
Increased scalp hair/growth
Photosensitivity/Sunsensitive skin
Pruritic/itching rash
Rash, erythematous/Sunburn-like
Subepidermal Blisters
Vesicobullous rashes
Vesicular rash
Wheal/flare skin reaction/hive
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/Childhood
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Event, Activity, Behavioral & Seasonal Factors
Event/Summertime manifestations
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Free erythrocyte protoporphrin/FEE test positive (Lab)
Abnormal Lab Findings - Increased
Protoporphyrin RBC (Lab)
Protoporphyrin (Lab)
Zinc Protoporphyrin/RBC (Lab)
URINE Porphyrins
STOOL Coproporphyrins
STOOL Protoporphyrin
Diagnostic Test Results
Pathology
Bone marrow/Red fluorescent normoblasts
Associated Diseases & Rule outs
Associated Disease & Complications
Autosplenectomy
Cholecystitis, acute
Cholelithiasis
Cholelithiasis/bilirubin gall stones
Erythropoetic protoporphyria variant
Hydroa vacciniforme
Photosensitivity dermatitis
Phototoxicity
Disease Synergy - Causes
Synergy/Sunlight exposure
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic porphyrin disorder (ex)
PROCESS/Metabolic/storage disorder (category)
Treatment
Other Treatments
TX/Avoid sunlight exposure
Definition
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External Links Related to Erythropoetic protoporphyria variant
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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