Disease Information for Pseudoxanthoma elasticum

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Clinical Manifestations
Signs & Symptoms
Bruising/Ecchymosis
Delayed/poor wound healing
Excess loose skin/child
Excessive/easy bruising tendency
Moro Reflex unilateral Abnormal
Stroke Syndrome Child
Stroke Syndrome/Hereditary Disease
Angioid streaks/retina
Blue Sclera
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Aortic aneurysm
Family history/GI Bleeding
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
X-RAY
Xray/Calcified artery/veins finding
Xray/Subcutaneous ossification centers/calcification
Xray/Muscle calcification
Xray/Soft tissue calcification/muscle/subcutaneous
Associated Diseases & Rule outs
Associated Disease & Complications
Abdominal aortic aneurysm
Aortic regurgitation
Aortic rupture, spontaneous
Cerebral vascular accident
Dissecting aortic aneurysm
Ischemia, cardiac
Mitral regurgitation
Mitral valve prolapse syndrome
Pulmonary artery/vein traumatic rupture
Stroke /Young adult
Stroke Syndromes/Atypical causes
Stroke/Child
Subarachnoid hemorrhage
Sudden Death Young Athlete
Small Intestine Bleeding
Upper GI bleeding
Disease Mechanism & Classification
Class
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Tissue/cells/organelles/collagen (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/Myocardial Ischemia Non-Arteriosclerosis
Pathophysiology/Small bowel bleeding source/adults
Pathophysiology/Elastin tissue defect
Process
PROCESS/Hereditofamilial (category)
Synonyms
Synonym
ELASTORRHEXIS SYSTEMIC OF TOURAINE, ELASTOSIS DYSTROPHICA SYNDROME, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum (disorder), PXE, PXE Pseudoxanthoma elasticum, Synonym/Groenblad-Strandberg syndrome
Definition

A rare, progressive inherited disorder resulting from extensive basophilic degeneration of elastic tissue, usually presenting after puberty and involving the skin, eye, and cardiovascular system. Characteristic manifestations are small, circumscribed yellowish patches at sites of considerable movement of the skin, ANGIOID STREAKS in the retina, and a tendency towards hemorrhage and arterial insufficiency.

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External Links Related to Pseudoxanthoma elasticum
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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