Pseudoxanthoma elasticum

disorder

SNOMED 252246005CUI C0033847

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Pseudoxanthoma Elasticum" from the MEDLINE/PubMed database.

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Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature.

[object Object], [object Object], [object Object] et al. · Rheumatol Int · 2024

PMID: 38141121Meta-Analysis

Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature.

[object Object], [object Object], [object Object] et al. · J Neurol Sci · 2017

PMID: 28131180Meta-Analysis

Lansoprazole Increases Inorganic Pyrophosphate in Patients with Pseudoxanthoma Elasticum: A Double-Blind, Randomized, Placebo-Controlled Crossover Trial.

[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2023

PMID: 36902331RCTFull text (PMC)

Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum.

[object Object], [object Object], [object Object] et al. · Atherosclerosis · 2020

PMID: 31756632RCT

The effect of etidronate on choroidal neovascular activity in patients with pseudoxanthoma elasticum.

[object Object], [object Object], [object Object] et al. · PLoS One · 2020

PMID: 33079965RCTFull text (PMC)

Magnesium supplementation in the treatment of pseudoxanthoma elasticum: A randomized trial.

[object Object], [object Object], [object Object] et al. · J Am Acad Dermatol · 2019

PMID: 30826287RCT

Etidronate for Prevention of Ectopic Mineralization in Patients With Pseudoxanthoma Elasticum.

[object Object], [object Object], [object Object] et al. · J Am Coll Cardiol · 2018

PMID: 29519353RCT

Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.

[object Object], [object Object] · J Inherit Metab Dis · 2026

PMID: 41376271Review

[Pseudoxanthoma elasticum-Novel therapeutic approaches on the horizon?]

[object Object], [object Object], [object Object] et al. · Ophthalmologie · 2025

PMID: 40434430Review

Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan.

[object Object], [object Object], [object Object] et al. · Keio J Med · 2025

PMID: 37380461Review

Search all PubMed articles for Pseudoxanthoma elasticum

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormality of cardiovascular system morphology

Very frequent (80-99%)HP:0030680

Abnormality of the cerebral blood vessels

Very frequent (80-99%)HP:0100659

Arterial stenosis

Very frequent (80-99%)HP:0100545

Dermatopathy

Very frequent (80-99%)HP:0000951

Excessive wrinkled skin

Very frequent (80-99%)HP:0007392

Knapp streaks

Very frequent (80-99%)HP:0001102

Noninflammatory retina disease

Very frequent (80-99%)HP:0000488

Retinal bleeding

Very frequent (80-99%)HP:0000573

Thickened skin folds of neck

Very frequent (80-99%)HP:0000474

Tight skin

Very frequent (80-99%)HP:0100679

Bruising susceptibility

Frequent (30-79%)HP:0000978

Decreased DLCO

Frequent (30-79%)HP:0045051

Generalized elastolysis

Frequent (30-79%)HP:0000973

Hyperpigmented papule

Frequent (30-79%)HP:0025473

Intermittent claudication

Frequent (30-79%)HP:0004417

Loose redundant skin

Frequent (30-79%)HP:0001582

Retinal peau d'orange

Frequent (30-79%)HP:0033027

Striae atrophicae

Frequent (30-79%)HP:0001065

Yellow-orange papule

Frequent (30-79%)HP:0025507

Abnormal deposits of calcium in the brain

Occasional (5-29%)HP:0002514

Abnormal endocardium morphology

Occasional (5-29%)HP:0004306

Abnormality of the chest

Occasional (5-29%)HP:0000765

Angina pectoris

Occasional (5-29%)HP:0001681

Aortic stenosis

Occasional (5-29%)HP:0001650

Blood platelet disease

Occasional (5-29%)HP:0001872

Cerebral vascular events

Occasional (5-29%)HP:0001297

Choroidal neovascular membrane

Occasional (5-29%)HP:0011506

Decreased visual acuity

Occasional (5-29%)HP:0007663

Gastrointestinal haemorrhage

Occasional (5-29%)HP:0002239

Grey sclerae

Occasional (5-29%)HP:0000592

Related Conditions

Inherited pseudoxanthoma elasticum(child)

Acquired pseudoxanthoma elasticum(child)

Drug-induced pseudoxanthoma elasticum(child)

Connective tissue disease(parent)

Degenerative disorder(parent)

Quick Facts

SNOMED CT: 252246005
UMLS CUI: C0033847
Fully Specified Name: Pseudoxanthoma elasticum (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.