ReviewIntractable & rare diseases research2015
Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.
Review in Intractable & rare diseases research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 118 citations in OpenAlex.
- Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature.Rheumatology international · 2024Pooled it
- Nonfamilial Pseudoxanthoma Elasticum: A Case Report With Review of Selected Literature.Clinical case reports · 2026Article
- Recurrent strokes and seizures in a young lady with thrombocytopenia: a new clinical face of ABCC6 mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Review
- Liver-directed base editing ofMolecular therapy. Nucleic acids · 2025Article
- Molecular insights into the comorbidity of vitamin K-dependent clotting factor deficiency and chondrodysplasia punctata.Journal of thrombosis and haemostasis : JTH · 2025Article
- Early pharmacological blockade of the CXCL12-CXCR4 axis attenuates vertebral hypercalcification in a zebrafish model of pseudoxanthoma elasticum.Biochemistry and biophysics reports · 2025Article
- Threads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum's Clinical Maze.Cureus · 2025Article
- Article
- Hexasodium Fytate (SNF472 or CSL525) Inhibits Ectopic Calcification in Various Pseudoxanthoma Elasticum and Calcinosis Cutis Animal Models.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Liquid Polycaprolactone (PCL) for Reversing PXE's Skin Laxity of Inner Thighs and Knees: A Case Report.Journal of cosmetic dermatology · 2025Article
- An Unusual Presentation of Morphea: A Case Report.Cureus · 2024Article
- Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.Progress in retinal and eye research · 2024Review
- Bone Marrow-Derived ABCC6 Is an Essential Regulator of Ectopic Calcification In Pseudoxanthoma Elasticum.The Journal of investigative dermatology · 2024Article
- Optic disc drusen: Dystrophic calcification, a potential target for treatment.Eye (London, England) · 2024Review
- Pseudoxanthoma elasticum, a difficult diagnostic in patient with dark skin.Skin health and disease · 2024Article
- Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum.Translational vision science & technology · 2024Article
- Article
- Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification.International journal of molecular sciences · 2023Article
- Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report.Cureus · 2023Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare heritable disease with an estimated prevalence of 1:50,000 in the general population. PXE is considered a prototype of multisystem ectopic mineralization disorders and it is characterized by aberrant mineralization of soft connective tissue with degeneration of the elastic fibers, involving primarily the eyes, the cardiovascular system, and the skin. Cutaneous lesions consist of small, asymptomatic, yellowish papules or larger coalescent plaques, typically located on the neck and the flexural areas. PXE is caused by mutations in the ABCC6 (ATP-binding cassette subfamily C member 6) gene that encodes a transmembrane ATP binding efflux transporter, normally expressed in the liver and the kidney; however, the exact mechanism of ectopic mineralization remains largely unknown. The histological examination of cutaneous lesions, revealing accumulation of pleomorphic elastic structures in middermis, is essential for the definitive diagnosis of PXE, excluding PXE-like conditions. PXE is currently an intractable disease; although the cutaneous findings primarily present a cosmetic problem, they signify the risk for development of ocular and cardiovascular complications associated with considerable morbidity and mortality. The purpose of this review is to present a comprehensive overview of this rare form of hereditary connective tissue disorders, focus on the pathogenesis, the clinical manifestation, and the differential diagnosis of PXE. Emphasis is also placed on the management of cutaneous lesions and treatment perspectives of PXE.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.