Uma forma autossômica recessiva de PXE.
Introdução
O que você precisa saber de cara
Uma forma autossômica recessiva de PXE.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 55 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Mediates ATP-dependent transport of glutathione conjugates such as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS) (in vitro), and an anionic cyclopentapeptide endothelin antagonist, BQ-123 (PubMed:11880368, PubMed:12414644). May contribute to regulate the transport of organic compounds in testes across the blood-testis-barrier (Probable
Basal cell membraneBasolateral cell membraneEndoplasmic reticulum membrane
Pseudoxanthoma elasticum
A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings.
Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:23982343, PubMed:24581741). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:23982343, PubMed:24581741). Required for normal maturation of chondrocytes during bone development, and normal onset of ossif
Golgi apparatus membraneSecreted
Desbuquois dysplasia 2
A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations.
Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein
Golgi apparatus membraneSecreted
Spondyloocular syndrome
A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis.
Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by binding to nascent hydroxyapatite crystals, thereby preventing further growth of these crystals (PubMed:11004006). Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP and UTP to their corresponding mono
Cell membraneBasolateral cell membraneSecreted
Ossification of the posterior longitudinal ligament of the spine
A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis.
Variantes genéticas (ClinVar)
914 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 771 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Pseudoxantoma elástico
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
7 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
31 ensaios clínicos encontrados, 9 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 618
Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Genetic variation in ATP Binding Cassette Subfamily C Member 6 (ABCC6) can cause both pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI). There are 930 distinct missense variants in ABCC6 reported, 87% of which are of uncertain clinical significance (VUS). New approaches are needed to mechanistically interpret and classify these VUS. We developed 3D protein models of ABCC6 in three functionally relevant conformations to calculate the structural effects of variants. We also used three-dimensional (3D) hotspot detection and developed a mechanistic ontology for critical structure-based functions of ABCC6, enabling us to categorize genomic variants. We identified two 3D hotspots and six specific functions of ABCC6 which variants impact. From this, we propose a mechanism for pathogenicity for 41% of VUS according to their impacted function. We propose that 33 of these variants could be reclassified as Likely Pathogenic with the addition of these structure-based evidence. The mechanistic information we present will guide future research to better address calcification disorders and understand genetic variants. This work emphasizes the benefits of thorough, holistic, and protein-based approaches to genetic interpretation. Further, our VUS reclassification approach will improve the diagnosis of ABCC6-driven diseases, shortening diagnostic odysseys. We believe that computational structural genomics approaches will soon take prominence in genomics data interpretation and variant classification.
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.
Pathological ectopic calcification of soft tissues can arise from reduced or absent levels of inorganic pyrophosphate (PPi), a key inhibitor of calcium hydroxyapatite deposition in soft connective tissues. The role of PPi in regulating mineralization has been recognized for decades, thanks to the pivotal work of Herbert Fleisch and colleagues; and its clinical relevance has been underscored by the identification of hereditary metabolic disorders, collectively termed PPi deficiency syndromes. These are caused by pathogenic variants in the essential genes for maintaining PPi homeostasis: ATP-binding cassette subfamily C member 6 (ABCC6), ectonucleotide pyrophosphate phosphodiesterase 1 (ENPP1), progressive ankylosis protein (ANK), tissue-nonspecific alkaline phosphatase (ALPL), CD73, and CD39. In recent years, abnormalities in lipid metabolism have been reported in these monogenic conditions. However, a common understanding of these alterations has yet to be established. This review provides an overview of the pathophysiology of PPi deficiency syndromes-pseudoxanthoma elasticum, generalized arterial calcification of infancy, arterial calcification due to CD73 deficiency, ankylosis, and Hutchinson-Gilford progeria syndrome-highlighting the lipid metabolism alterations in cells, animal models, and patients. We explore the evidence for a potential role of PPi-regulating proteins in lipid metabolic pathways to demonstrate that lipid alterations are not coincidental but entail opportunities for future research and for potential therapeutic interventions.
Successful PCI for advanced coronary stenoses of a generalized arterial calcification of infancy (GACI) survivor.
The liver regulates ectopic calcification in Abcc6-deficient models of Pseudoxanthoma Elasticum.
Pseudoxanthoma Elasticum (PXE) is a rare disease caused by loss of function of the gene Abcc6 and characterized by ectopic calcification of multiple tissues, but the physiological reasons underlying ectopic calcification in PXE remain unclear. In a murine model of Abcc6 deficient PXE where animals develop robust cardiac calcification after heart injury, we show the critical importance of the liver in mediating ectopic cardiac calcification. Tissue-specific deletion of Abcc6 in the liver, but not in the heart was sufficient to cause post-injury cardiac calcification. Metabolomics and gene expression demonstrated deficiencies in nucleotide metabolism, cellular energetics and defects in cellular respiration, underlying ectopic calcification in PXE. Functional abnormalities in cellular respiration in the injured heart were similar in globally or liver-specific Abcc6-deficient animals demonstrating that hepatic Abcc6 expression regulates cellular respiration in the injured heart. We show that ectopic calcification in PXE is primarily dystrophic and treatment with clodronate or etidronate, that prevent the growth of calcium hydroxyapatite mineralization, was sufficient to rescue the phenotype of ectopic cardiac calcification in Abcc6-deficient states. Taken together, these observations highlight the role of the liver in regulating target tissue metabolic and mitochondrial function in causing ectopic calcification in Abcc6-deficient states.
ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.
Background: Heterozygosity for pathogenic variants in the ABCC6 gene has been associated with an increased incidence of cerebrovascular diseases. This study aims to characterize the prevalence and clinical and neuroradiological phenotypes associated with monoallelic and biallelic ABCC6 variants in pediatric and adult patients presenting with arterial ischemic stroke or cerebral small vessel disease (CSVD). Methods: We conducted a retrospective observational study on 143 consecutive patients (48 pediatric, 24 juvenile, 71 adult) diagnosed with ischemic stroke or CSVD of unknown etiology. Clinical and neuroradiological data were collected and analyzed in relation to the identified genetic variants through next-generation sequencing. Results: Among the patients, 16 (11.2%) tested positive for causative variants in the ABCC6 gene, with 11 subjects carrying monoallelic variants and 5 carrying biallelic variants. Patients with biallelic variants exhibited severe and complex vasculopathy, with a high incidence of early ischemic events. In contrast, monoallelic carriers predominantly presented with microvascular disease manifestations, including lacunar strokes and signs of CSVD. Conclusions: The results suggest a significant age-dependent phenotypic divergence in patients with ABCC6 variants, highlighting the impact of heterozygosity on cerebrovascular health. Identifying these variants may enhance risk stratification and inform management strategies in patients with traditional vascular risk factors.
Publicações recentes
Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report.
Ocular Manifestations Leading to the Diagnosis of Pseudoxanthoma Elasticum with a Novel Heterozygous ABCC6 Mutation: A Case Report.
Low-Intensity Pulsed Ultrasound Therapy for Patients With Rutherford Stage 4 Peripheral Arterial Disease.
Multifocal lacunar stroke in pseudoxanthoma elasticum.
Three People With Recurrent Nephrolithiasis and Heterozygous ABCC6 Mutations.
📚 EuropePMC1.408 artigos no totalmostrando 196
The liver regulates ectopic calcification in Abcc6-deficient models of Pseudoxanthoma Elasticum.
The Journal of clinical investigationPseudoxanthoma elasticum - The skin as a sentinel of systemic disease.
Annales de dermatologie et de venereologieMulti-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
International journal of molecular sciencesABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.
GenesLoss of ABCC6 in Human Mesenchymal Stem Cells Leads to Elevated Reactive Oxygen Species Formation and a Senescence-like Phenotype.
Antioxidants (Basel, Switzerland)Not So Normal Skin: A Review of the "Random" Skin Biopsy.
The American Journal of dermatopathologyVitamin K in dermatology.
Clinics in dermatologyHeterozygous ABCC6 mutation in a patient with sickle cell disease: Pseudoxanthoma elasticum or pseudoxanthoma elasticum-like phenotype?
JAAD case reportsIdiopathic Localized Acquired Cutis Laxa in an Adult Male: A Case Report.
CureusHigh-dose oral pyrophosphate inhibits connective tissue calcification in Abcc6 null mice but may affect bone structure.
JBMR plusABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.
Scientific reportsArterial stiffness is related to a higher risk of cardiovascular events in patients with pseudoxanthoma elasticum (PXE).
Vascular medicine (London, England)Identification of a Novel Pathogenic ABCC6 Mutation Through Familial Genetic Analysis in Pseudoxanthoma Elasticum: A Case Report.
CureusAssessment of simulation-based therapeutic education in pseudoxanthoma elasticum patients.
Annales de dermatologie et de venereologieREACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE).
Annales de dermatologie et de venereologieA curious case of cutaneous elastolysis.
JAAD case reportsPseudoxanthoma elasticum.
Cleveland Clinic journal of medicineSuccessful PCI for advanced coronary stenoses of a generalized arterial calcification of infancy (GACI) survivor.
Pediatrics international : official journal of the Japan Pediatric SocietyRepurposing osteoporosis medications for other diseases: a narrative review by the European Calcified Tissue Society (ECTS).
BoneIntravitreal faricimab treatment for traumatic choroidal rupture and macular neovascularization in angioid streaks: A case report.
European journal of ophthalmologyLong-term Visual Outcomes in Pseudoxanthoma Elasticum-associated Choroidal Neovascularization: A National Database Study.
Ophthalmic surgery, lasers & imaging retinaIron-associated central macular ganglion cell complex thinning and choroidal vascularity index elevation in transfusion-dependent β-thalassemia: potential OCT/OCTA biomarkers.
BMC ophthalmologyLipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.
Journal of inherited metabolic diseaseLiver-directed base editing of ABCC6 prevents ectopic calcification in a variant-humanized mouse model of pseudoxanthoma elasticum.
Molecular therapy. Nucleic acidsUnique Intravascular Ultrasound and Optical Coherence Tomography Features of Multivessel Coronary Stenosis in Pseudoxanthoma Elasticum.
JACC. Case reportsABCC6 and ANK regulate extracellular homeostasis of pyrophosphate and citrate and affect mineral deposition in bones and soft connective tissues.
bioRxiv : the preprint server for biologyPediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
Orphanet journal of rare diseasesNon-Invasive Skin Imaging of Pseudoxanthoma Elasticum Using Dynamic Optical Coherence Tomography: Insights from a Case-Control Study.
Dermatology practical & conceptualMeasurement Reliability and Functional Validity of Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: PROPXE Study Report 2.
Investigative ophthalmology & visual scienceABCC6-Related Left Ventricular Papillary Muscle Calcification.
JACC. Case reportsHigh-Resolution Optical Coherence Tomography Correlates of Peau d'Orange in Pseudoxanthoma Elasticum.
JAMA ophthalmologyPseudoxanthoma Elasticum and the Logic of its Ocular Manifestations.
JAMA ophthalmologyImproved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs.
Nature biomedical engineeringMitral Valve Aneurysm With Perforation Resulting in Severe Mitral Regurgitation Secondary to Infective Endocarditis: A Report of a Rare Case.
CureusThe TEMP-PREVENT trial: a study protocol for a randomized, double-blind, placebo-controlled clinical trial of etidronate for treatment in young adult patients with pseudoxanthoma elasticum.
TrialsChoroidal measurements in patients affected by PXE-related retinopathy.
Frontiers in ophthalmologyThe Importance of Being Earnest: Putting Molecular Analysis for the Diagnosis of Pseudoxanthoma Elasticum in Perspective.
The Journal of investigative dermatologyPseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis (PXE-PDE) in an Elderly Female: A Rare Diagnostic Entity.
Clinical, cosmetic and investigational dermatologyLetter in Response to Verschuere et al.
The Journal of investigative dermatologyAngioid streaks-related choroidal neovascularization: Clinical features, multimodal imaging-based differential diagnosis, and optimized treatment strategies.
Survey of ophthalmologyThreads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum's Clinical Maze.
CureusEarly pharmacological blockade of the CXCL12-CXCR4 axis attenuates vertebral hypercalcification in a zebrafish model of pseudoxanthoma elasticum.
Biochemistry and biophysics reportsAcquired cutaneous pseudoxanthoma elasticum progressing after chronic liver transplant rejection.
Annales de dermatologie et de venereologieIntraocular Pressure After Anti-Vascular Endothelial Growth Factor Injection in Eyes With a Mineralized Bruch's Membrane Caused by Pseudoxanthoma Elasticum.
Investigative ophthalmology & visual scienceHigh-dose oral pyrophosphate inhibits connective tissue calcification in Abcc6 null mice but affects bone structure.
bioRxiv : the preprint server for biologyCardiovascular Manifestations of Pseudoxanthoma Elasticum.
CureusInborn Errors of Metabolism: Pseudoxanthoma elasticum.
Advances in experimental medicine and biologyExploring Concomitant Ophthalmic Comorbidities in Portuguese Patients with Inherited Retinal Diseases: A Comprehensive Clinical Study.
GenesABCC6 Involvement in Cerebral Small Vessel Disease: Potential Mechanisms and Associations.
GenesA Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
bioRxiv : the preprint server for biologyA Case of Nonfamilial Pseudoxanthoma Elasticum.
Mayo Clinic proceedingsAbaloparatide-induced pseudoxanthoma elasticum.
JAAD case reportsPseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort.
The Journal of investigative dermatologyVegfa signaling ameliorates cardiac fibrosis and restores endothelial regeneration in a point-mutated zebrafish model of pseudoxanthoma elasticum.
Biochemical and biophysical research communicationsA Case of Pseudoxanthoma Elasticum Caused by a Novel Structural Variant of the ABCC6 Gene.
The Journal of dermatology[Pseudoxanthoma elasticum (PXE)-The eye as a diagnostic key].
Die OphthalmologiePrenatal Diagnosis and 10-Year Follow-up of Type-II Generalized Arterial Calcification of the Infancy.
American journal of perinatologyA Case of Pediatric Atypical Pseudoxanthoma Elasticum.
International journal of dermatology[Ocular alterations in pseudoxanthoma elasticum : The eye as a window to diagnosing a systemic disease].
Die OphthalmologieManaging Choroidal Neovascularization in Pseudoxanthoma Elasticum: Outcomes of Vitrectomy and Intravitreal Ranibizumab/Aflibercept Therapy-A Case Report.
Case reports in ophthalmological medicine[Pseudoxanthoma elasticum-Novel therapeutic approaches on the horizon?].
Die OphthalmologieAngioid streaks and optic disc drusen in a patient with congenital dyserythropoietic anaemia.
BMJ case reportsSkin-Colored Papules on the Neck of a Postmenopausal Woman: A Diagnostic Challenge.
Dermatopathology (Basel, Switzerland)Pseudoxanthoma Elasticum-Like Phenotype With a Novel MGP Variant.
JAMA dermatologyAcute Angioid Streak Retinopathy is a Two-Phase Inflammatory Process Starting with Outer Retinal Inflammation, Followed by Secondary MEWDS.
Ocular immunology and inflammationHexasodium Fytate (SNF472 or CSL525) Inhibits Ectopic Calcification in Various Pseudoxanthoma Elasticum and Calcinosis Cutis Animal Models.
Pharmaceuticals (Basel, Switzerland)Investigation on ABCC6-Deficient Human Hepatocytes Generated by CRISPR-Cas9 Genome Editing.
CellsVITELLIFORM LESIONS ASSOCIATED WITH ANGIOID STREAKS: Long-Term Follow-Up of a Rarely Described Phenotype.
Retina (Philadelphia, Pa.)A male patient with pseudoxanthoma elasticum caused by isodisomy of chromosome 16 containing a nonsense variant of the ABCC6 gene: A quarter-century treatment experience.
Atherosclerosis plusPeriumbilical perforating pseudoxanthoma elasticum.
JAAD case reportsA case of peristomal pyoderma gangrenosum with histological features of pseudoxanthoma elasticum.
JAAD case reportsAngioid Streaks and Choroidal Osteoma in Pseudoxanthoma Elasticum.
Retina (Philadelphia, Pa.)ABCC6 gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks.
Ophthalmic geneticsA severe ABCC6 -induced generalized arterial calcification of infancy overshadowed by the EGFR -associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.
The Journal of dermatologyPIVKA-II as a biomarker in pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency: implications for vitamin K therapy.
The British journal of dermatologyChoroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: case report.
Romanian journal of ophthalmologyPseudoxanthoma elasticum with cardiovascular involvement.
European heart journalTopography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1.
Investigative ophthalmology & visual scienceThe PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.
TrialsNew findings of dermoscopy and reflectance confocal microscopy for perforating pseudoxanthoma elasticum with elastosis perforans serpiginosa-like changes.
JAAD case reportsWhole genome sequencing of 10 families with optic disc drusen.
Ophthalmic geneticsDifferential Diagnosis of Age-Related Macular Degeneration.
Klinische Monatsblatter fur AugenheilkundeBase of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.
Calcified tissue internationalAtypical angioid streaks in a patient with a monoallelic ABCC6 mutation.
Ophthalmic geneticsLiquid Polycaprolactone (PCL) for Reversing PXE's Skin Laxity of Inner Thighs and Knees: A Case Report.
Journal of cosmetic dermatologyPseudoxanthoma elasticum-like papillary dermal elastolysis; A report of two cases and a literature review.
Dermatology online journalFibroelastolytic papulosis: two cases of disease spectrum variants.
Dermatology online journalT-cell-related skin inflammatory flareups with Th1 polarity in a patient with pseudoxanthoma elasticum.
Skin health and diseaseArterial calcification volume is associated with a higher risk of cardiovascular events in pseudoxanthoma elasticum.
AtherosclerosisCellular and biochemical approaches to define GGCX carboxylation of vitamin K-dependent proteins.
Methods in enzymologyImproving precision base editing of the zebrafish genome by Rad51DBD-incorporated single-base editors.
Journal of genetics and genomics = Yi chuan xue baoInorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes.
Frontiers in geneticsSuccessful Pedal Bypass in a Patient With Pseudoxanthoma Elasticum.
Vascular and endovascular surgeryNovel Human Induced Pluripotent Stem Cell-Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in Pseudoxanthoma Elasticum.
Journal of ophthalmologyAutosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieGeneralized Arterial Calcification of Infancy (GACI).
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieNovel treatment for PXE: Recombinant ENPP1 enzyme therapy.
Molecular therapy : the journal of the American Society of Gene TherapyGonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.
Current issues in molecular biologyCardiovascular Manifestations of Pseudoxanthoma Elasticum: Pathophysiology, Management, and Research.
Cardiology in reviewPseudoxanthoma elasticum: An unique entity in the coronary surgery.
PerfusionTreatment of skin lesions related to pseudoxanthoma elasticum in plastic surgery.
Annales de chirurgie plastique et esthetiqueComprehensive review of angioid streaks.
Indian journal of ophthalmologyCyclical Etidronate Reduces the Progression of Arterial Calcifications in Patients with Pseudoxanthoma Elasticum: A 6-Year Prospective Observational Study.
Journal of clinical medicineHigh prevalence of breast arterial calcification in pseudoxanthoma elasticum (PXE) - A nationwide study in the Netherlands.
Vascular medicine (London, England)Progression Rate of Macular Retinal Pigment Epithelium Atrophy in Geographic Atrophy and Selected Inherited Retinal Dystrophies. A Systematic Review and Meta-Analysis.
American journal of ophthalmologyThe 2023 PXE Calcification Meeting in Budapest: A Focus on Clinical Trials for this Disease.
The Journal of investigative dermatologyBilateral angioid streaks in a young patient with pseudoxanthoma elasticum.
Oman journal of ophthalmologyPrevalence, Features, and Outcomes of Type 1 Neovascularization in Eyes with Angioid Streaks.
Ophthalmology. RetinaPseudoxanthoma elasticum, a difficult diagnostic in patient with dark skin.
Skin health and diseasePseudoxanthoma Elasticum-Like Changes:Associations- and Underlying Mechanisms.
SkinmedComprehensive analysis of pseudoxanthoma elasticum: epidemiological, genetic, and clinical findings from the leading Italian center.
Italian journal of dermatology and venereologyInfluence of pseudoxanthoma elasticum on the lipid profile and prognostic implications.
VASA. Zeitschrift fur GefasskrankheitenDetailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy.
Case reports in ophthalmologyChanges in the gut microbiota of pseudoxanthoma elasticum patients.
Annales de dermatologie et de venereologieOptic Disc Drusen in Pseudoxanthoma Elasticum Are Associated with the Extent of Bruch's Membrane Calcification.
Journal of clinical medicineA Plasma Pyrophosphate Cutoff Value for Diagnosing Pseudoxanthoma Elasticum.
International journal of molecular sciencesSubretinal hemorrhages with subfoveal involvement after blunt ocular trauma, in a patient with pseudoxanthoma elasticum and angioid streaks.
Archivos de la Sociedad Espanola de OftalmologiaThe Natural Course of Arterial Calcifications in Pseudoxanthoma Elasticum: A Prospective Cohort Study.
JACC. Cardiovascular imagingPseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.
Progress in retinal and eye researchThe role of multimodal imaging in characterization and monitoring of choroidal neovascularization secondary to angioid streaks.
European journal of ophthalmologyFibroblasts' secretome from calcified and non-calcified dermis in Pseudoxanthoma elasticum differently contributes to elastin calcification.
Communications biologyAngioid Streaks and Choroidal Neovascular Membrane Secondary to Pseudoxanthoma Elasticum: A Case Report.
CureusPenicillamine-Induced Localised Cutis Laxa in a Patient with Wilson Disease: A Case Report.
Mediterranean journal of rheumatologyClinical features and possible pathogenesis of multiple evanescent white dot syndrome with different retinal diseases and events: a narrative review.
International journal of ophthalmologyA Rare Case of Pseudoxanthoma Elasticum Identified by Ocular Angioid Streaks.
Cureus[Ischemic stroke in a patient with pseudoxanthoma elasticum and carotid rete mirabile].
Der NervenarztHistological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum.
Translational vision science & technologyElectrodiagnostic Biomarkers in Paraneoplastic Retinopathy.
Klinische Monatsblatter fur AugenheilkundeAnti-VEGF Treatment for Secondary Neovascularization in Pseudoxanthoma Elasticum - Age of Onset, Treatment Frequency, and Visual Outcome.
American journal of ophthalmologyMutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.
European journal of ophthalmologyA Case of Pseudoxanthoma Elasticum with Juvenile-onset Hypertension.
Internal medicine (Tokyo, Japan)The Adaptive Immune System: A New Pseudoxanthoma Elasticum Protagonist?
The Journal of investigative dermatologyIncreased Intracranial Arterial Pulsatility and Microvascular Brain Damage in Pseudoxanthoma Elasticum.
AJNR. American journal of neuroradiologyAngioid Streaks Remain a Challenge in Diagnosis, Management, and Treatment.
Vision (Basel, Switzerland)Pseudoxanthoma elasticum-associated angioid streaks near a scleral buckle.
American journal of ophthalmology case reportsThe Purinergic Nature of Pseudoxanthoma Elasticum.
BiologyBone Marrow-Derived ABCC6 Is an Essential Regulator of Ectopic Calcification In Pseudoxanthoma Elasticum.
The Journal of investigative dermatologyPseudoxanthoma elasticum and hereditary renal hypouricemia: Complication of systemic disorders or different entities? Presentation of a case.
NefrologiaClinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare ABCC6 Mutation.
Journal of personalized medicinePlasma lipids in Pseudoxanthoma Elasticum (PXE) patients: A comparative study with population-based reference values and Non-PXE controls.
Atherosclerosis plusBruch's Membrane Calcification in Pseudoxanthoma Elasticum: Comparing Histopathology and Clinical Imaging.
Ophthalmology sciencePseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature.
Rheumatology internationalIdentification of a DBA/2 Mouse Sub-strain as a Model for Pseudoxanthoma Elasticum-Like Tissue Calcification.
Biological & pharmaceutical bulletinPseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report.
CureusNovel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification.
International journal of molecular sciencesDermoscopic Patterns of Genodermatoses: A Comprehensive Analysis.
BiomedicinesThe Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients.
BiomedicinesENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.
Annual review of pathologyEpidemiology of Angioid Streaks and Pseudoxanthoma Elasticum (2011-2020): A Nationwide Population-based Cohort Study.
Ophthalmology scienceSudden onset generalised yellowish papules.
BMJ (Clinical research ed.)Do pseudoxanthoma elasticum patients have higher prevalence of kidney stones on computed tomography compared to hospital controls?
Clinical and experimental nephrologyMultimodal Imaging of "Comet Lesions" in Pseudoxanthoma Elasticum With Retromode Scanning Laser Ophthalmoscopy.
Retina (Philadelphia, Pa.)Acquired pseudoxanthoma elasticum-like syndrome and pyruvate kinase deficiency: a case of iron overload?
European journal of dermatology : EJDMacular neovascularization in inherited retinal diseases: A review.
Survey of ophthalmologySubclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration.
Ophthalmology and therapyTwo-Photon Excited Fluorescence Lifetime Imaging of Tetracycline-Labeled Retinal Calcification.
Sensors (Basel, Switzerland)Pseudoxanthoma Elasticum With Detailed Analyses of Coronary Artery Disease.
JACC. Case reportsIs it time to reconsider the MRP6 role in bile secretion and LPAC genetic signature?
Journal of hepatologyRecent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan.
The Keio journal of medicinePseudoxanthoma elasticum is associated with cardiocirculatory inefficiency.
Intractable & rare diseases researchPseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene.
Ophthalmic geneticsMatrix Metalloproteinases Contribute to the Calcification Phenotype in Pseudoxanthoma Elasticum.
BiomoleculesDiagnosis of Mycosis Fungoides after Dupilumab Treatment for Atopic Dermatitis.
SkinmedPseudoxanthoma-elasticum-like changes on the soft palate.
Journal of cutaneous pathologyDiagnosis of pseudoxanthoma elasticum in a patient with discrete skin lesions.
Anais brasileiros de dermatologiaRefractory Choroidal Neovascularization in a Patient With Pseudoxanthoma Elasticum and Cowden Syndrome.
Journal of vitreoretinal diseasesThe Consideration of Pseudoxanthoma Elasticum as a Progeria Syndrome.
Frontiers in bioscience (Landmark edition)EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM.
Retinal cases & brief reportsLax skin and blurring of vision- A case report of pseudoxanthoma elasticum.
Journal of family medicine and primary careInorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.
Journal of clinical medicineLansoprazole Increases Inorganic Pyrophosphate in Patients with Pseudoxanthoma Elasticum: A Double-Blind, Randomized, Placebo-Controlled Crossover Trial.
International journal of molecular sciences[Dermoscopy of genodermatoses].
Dermatologie (Heidelberg, Germany)Correlation of systemic involvement and presence of pathological skin calcification assessed by ex vivo nonlinear microscopy in Pseudoxanthoma elasticum.
Archives of dermatological researchPseudoxanthoma Elasticum-like Syndrome.
The New England journal of medicineChoriocapillaris Flow Signal Impairment in Patients With Pseudoxanthoma Elasticum.
Investigative ophthalmology & visual sciencePlasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.
Journal of clinical medicineBilateral axillary plaques.
Journal of cutaneous pathologyGeneralized Papular Granuloma Annulare Presenting With Pseudoxanthoma Elasticum-Like Lesions.
Actas dermo-sifiliograficasRECURRENCE OF ACUTE RETINOPATHY IN PSEUDOXANTHOMA ELASTICUM.
Retinal cases & brief reportsLONG-TERM PROGNOSIS OF CHOROIDAL NEOVASCULARIZATION COMPLICATING ANGIOID STREAKS.
Retina (Philadelphia, Pa.)Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases.
International journal of molecular sciencesAnticalcification effects of DS-1211 in pseudoxanthoma elasticum mouse models and the role of tissue-nonspecific alkaline phosphatase in ABCC6-deficient ectopic calcification.
Scientific reportsThe pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Human mutationWhole-exome sequencing reveals a retinitis pigmentosa-causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum.
The Journal of dermatologyMassive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy.
World journal for pediatric & congenital heart surgeryLate-onset focal dermal elastosis: Report of a case and review of the literature.
Dermatology reportsPseudoxanthoma elasticum resulting in acute coronary syndrome.
Journal of cardiology casesHypotony Maculopathy Related to Anti-VEGF Intravitreal Injection.
International medical case reports journalSeeing through the cracks.
The journal of the Royal College of Physicians of EdinburghTargeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.
International journal of molecular sciencesPeripheral Interventions in Patients with Pseudoxanthoma Elasticum (PXE).
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryCase Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene.
Frontiers in endocrinologyCase report: Grönblad-Strandberg syndrome.
Romanian journal of ophthalmologySystemic disease associations with angioid streaks in a large healthcare claims database.
Eye (London, England)Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.
Journal of clinical medicine[Partial research progress of GGCX pathogenic variation associated phenotypes].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
- Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.
- Successful PCI for advanced coronary stenoses of a generalized arterial calcification of infancy (GACI) survivor.Pediatrics international : official journal of the Japan Pediatric Society· 2026· PMID 41454651mais citado
- The liver regulates ectopic calcification in Abcc6-deficient models of Pseudoxanthoma Elasticum.
- ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.
- Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report.
- Ocular Manifestations Leading to the Diagnosis of Pseudoxanthoma Elasticum with a Novel Heterozygous ABCC6 Mutation: A Case Report.
- Low-Intensity Pulsed Ultrasound Therapy for Patients With Rutherford Stage 4 Peripheral Arterial Disease.
- Multifocal lacunar stroke in pseudoxanthoma elasticum.
- Three People With Recurrent Nephrolithiasis and Heterozygous ABCC6 Mutations.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:758(Orphanet)
- OMIM OMIM:264800(OMIM)
- MONDO:0009925(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1052391(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
