inherited pseudoxanthoma elasticum
MeSH: D011561ORPHA: 758
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with inherited pseudoxanthoma elasticum, sourced from HPO and Orphanet clinical annotations.
Thickened nuchal skin foldRetinopathyRetinal hemorrhageAbnormality of the skinAngioid streaksExcessive wrinkled skinAbnormal cardiovascular system morphologyArterial stenosisAbnormal cerebral vascular morphologyLack of skin elasticityBruising susceptibilityStriae distensaeRedundant skinIntermittent claudicationHyperpigmented papuleRetinal peau d'orangeNephrocalcinosisVisual impairmentBlue scleraeAbnormal thorax morphologyHypertensionHyperextensible skinMultiple lipomasStrokeSubcutaneous noduleMitral valve prolapseSudden cardiac deathAortic valve stenosisAngina pectorisRestrictive cardiomyopathyAbnormality of thrombocytesPostural instabilityGastrointestinal hemorrhageTransient ischemic attackCerebral calcificationAbnormal endocardium morphologyChoroidal neovascularizationMetamorphopsiaTelangiectasia of the skinRenovascular hypertensionJoint hypermobility
Classification & Codes
MeSH Code
D011561Orphanet Code
ORPHA:758inherited pseudoxanthoma elasticum
| MeSH | D011561 |
| Orphanet | ORPHA:758 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO