Relationships between Plasma Pyrophosphate, Vascular Calcification and Clinical Severity in Patients Affected by Pseudoxanthoma Elasticum
Georges LefthériotisNastassia NavasiolavaLaetitia ClotaireChristophe DurantonOlivier Le SauxBendahhou ZourarahAudrey LaurainIsabelle RuberaLudovic Martin
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Abstract:
Pseudoxanthoma elasticum (PXE; OMIM 264800) is an autosomal recessive metabolic disorder characterized by progressive calcification in the skin, the Bruch’s membrane, and the vasculature. Calcification in PXE results from a low level of circulating pyrophosphate (PPi) caused by ABCC6 deficiency. In this study, we used a cohort of 107 PXE patients to determine the pathophysiological relationship between plasma PPi, coronary calcification (CAC), lower limbs arterial calcification (LLAC), and disease severity. Overall, our data showed a deficit in plasma PPi in PXE patients compared to controls. Remarkably, affected females showed higher PPi levels than males, but a lower LLAC. There was a strong correlation between age and PPi in PXE patients (r = 0.423, p < 0.0001) but not in controls (r = 0.059, p = 0.828). A weak correlation was found between PPi and CAC (r = 0.266, p < 0.02); however, there was no statistically significant connection with LLAC (r = 0.068, p = 0.518) or a severity score (r = 0.077, p = 0.429). Surprisingly, we found no significant correlation between plasma alkaline phosphatase activity and PPi (r = 0.113, p = 0.252) or between a 10-year cardiovascular risk score and all other variables. Multivariate analysis confirmed that LLAC and CAC were strongly dependent on age, but not on PPi. Our data showed that arterial calcification is only weakly linked to circulating PPi levels and that time (i.e., age) appears to be the major determinant of disease severity and calcification in PXE. These data are important to better understand the natural history of this disease but also for the follow-up and management of patients, and the design of future clinical trials. Our results also show that PPi is not a good biomarker for the evaluation of disease severity and progression.Keywords:
Pseudoxanthoma Elasticum
Pathophysiology
Objective
To analyze the clinical features of juvenile dermatomyositis (JDM) combined with soft-tissue calcification.
Methods
Forty-seven patients with JDM combined with soft-tissue calcification (soft-tissue calcification group) were retrospectively analyzed, and they were contrasted with 89 patients with non-calcification (non-calcification group).
Results
The rates of Gotton signe, muscle contracture and joint dysfunction in soft-tissue calcification group were significantly higher than those in non-calcification group: 87.23% (41/47) vs. 43.82% (39/89) and 68.09% (32/47) vs. 21.35% (19/89), and there were statistical differences (P<0.05). The dosage of glucocorticoid (conversion of prednisone measuring more than 1.5 mg/kg), rate of using immunodepressant, level of creatine kinase in soft-tissue calcification group were significantly lower than those in non-calcification group: 17.02% (8/47) vs. 68.54% (61/89), 25.53% (12/47) vs. 88.76% (79/89), (566.45±240.41) U/L vs. (1 680.12±656.50) U/L, and there were statistical differences (P<0.05).
Conclusions
The patients with JDM combined with Gotton signe are more prone to soft-tissue calcification. The rate of muscle contracture and joint dysfunction in soft-tissue calcification patients is significantly higher than that in non-calcification patients. For the patients whose creatine kinase are not obviously elevated, they are more prone to soft-tissue calcification. Early active application of glucocorticoid and immunodepressant therapy can reduce or prevent the occurrence or development of late calcium deposition.
Key words:
Dermatomyositis; Retrospective studies; Solt-tissue calcification
Juvenile Dermatomyositis
Creatine kinase
Dystrophic calcification
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SUMMARY This paper reports the case of a baby with coronary calcinosis born to a mother suffering from pseudoxanthoma elasticum. The aetiology of infantile coronary calcification is discussed, and the point is made that the dystrophic type is a disease of elastic tissue. Both conditions are rare genetic diseases and show dystrophic changes of the elastic tissue.
Pseudoxanthoma Elasticum
Etiology
Angioid streaks
Dystrophic calcification
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Calcification of soft tissues is known to occur frequently in progressive systemic sclerosis (PSS) and dermatomyositis. To our knowledge, only seven case reports have appeared concerning this abnormality in systemic lupus erythematosus (SLE). We describe four patients with well-documented SLE who developed calcification in subcutaneous tissue, muscle, or periarticular structures. The pattern and localization of the calcification can mimic those seen in other disorders.
Dystrophic calcification
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We describe a ureteral disruption in a patient with pseudoxanthoma elasticum. Pseudoxanthoma elasticum is characterized by major changes in the physical properties of tissues that indicate a need for modifications in classical tissue handling techniques. In particular, low elasticity and tensile strengths make dilation a more hazardous procedure in patients with pseudoxanthoma elasticum.
Pseudoxanthoma Elasticum
Dilation (metric space)
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Pseudoxanthoma Elasticum
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The authors summarize the up-to-date knowledge on pseudoxanthoma elasticum, a hereditary connective tissue disorder that results in the fragmentation and mineralization of elastic fibres. Three cases of pseudoxanthoma elasticum under complex dermatological, ophthalmologic and cardiovascular management are described, emphasizing the multidisciplinary aspects of dermatology
Pseudoxanthoma Elasticum
Connective Tissue Disorder
Multidisciplinary team
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Pseudohypoparathyroidism
Hypoparathyroidism
Neuroradiology
Basal ganglia disease
Basal (medicine)
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Groenblad-Strandberg syndrome, also known as Pseudoxanthoma Elasticum (PXE), is a rare heritable disease. The skin, retina, and cardiovascular system are frequently affected by this genetic connective tissue disease. Discrete lesions usually first appear on the skin, then extra-dermal symptoms appear. The diagnosis is influenced by clinical symptoms, histological analysis of the lesions, and genetic testing. It is also known as multisystem orphan illness. Mutations in the ABCC6 gene cause Pseudoxanthoma Elasticum (PXE), a genetic metabolic disorder with an autosomal recessive inheritance pattern. Ectopic mineralization, which is most easily seen inside the elastic tissues of the skin, eyes, and blood vessels, is brought on by the absence of the beneficial ABCC6 protein. The ATP-dependent transmembrane transporter family member ABCC6 (also known as MRP6), whose gene codes for the protein, is expressed largely in the liver and kidneys and only slightly less in organs that are affected by PXE. Lack of functional ABCC6 protein results in ectopic mineralization, which is especially noticeable in the elastic tissues of the skin, eyes, and blood vessels. In 1881, French dermatologist Rigal became the first person to describe the condition in writing. Even though the physiological substrates of ABCC6 are still unclear, the current theory is that PXE should be viewed as a metabolic disorder with unknown circulating chemicals interfering with the synthesis, turnover, or maintenance of elastic fibres. The degree of extracutaneous organ involvement determines the Pseudoxanthoma Elasticum prognosis (PXE).
Pseudoxanthoma Elasticum
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REPORTS of metastatic calcification in the skin are uncommon, even though it was described by Jadassohn1 as long ago as 1910. Metastatic calcification is seen in diseases associated with chronically elevated blood calcium and phosphorus levels. In contrast, dystrophic calcification occurs in diseases associated with local tissue injury, in which serum calcium and phosphorus levels remain normal.2 Recently, Selye3 described an experimental form of soft-tissue calcification called "calciphylaxis." This form of calcification occurred in rats when acute calcium mobilization, which of itself would not induce metastatic calcification, was followed by an injury or challenge, which also of itself would not . . .
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Calciphylaxis
Calcinosis cutis
Dystrophic calcification
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Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.
Pseudoxanthoma Elasticum
Angioid streaks
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