Pseudoxanthoma Elasticum

EDDY, DONALD D.

doi:10.1001/archderm.1962.01590120027005

Cited by 61 publications

(3 citation statements)

References 15 publications

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“…In one study comparing a history method with a direct analysis of food consumed, retrospective estimation of calcium intake was the most accurate of all nutrients assessed [Hart and Cox, 19671. Calcium ingestion during adolescence is positively correlated with overall severity of PXE when the sexes are analyzed together. This result is consistent with the general impression that preadulthood is a critical period in the course of the disease [Eddy and Farber, 1962;McKusick, 19721. During adulthood, connective tissue is turning over less actively [Gunja-Smith and Boucek, 19811 and may, therefore, be less susceptible to calcium deposition.…”

Section: Discussionsupporting

confidence: 90%

Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity

et al. 1984

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The characteristic histopathologic lesion of pseudoxanthoma elasticum (PXE) is calcification of the central core of elastic fibers in affected organs; it is correlated with clinical severity. One hypothesis holds that lowering dietary calcium might reduce or prevent tissue injury and minimize clinical effects. This hypothesis would be supported by demonstrating that clinical expression is positively associated with previous calcium intake. We studied 32 unrelated PXE patients (20 men and 12 women, mean age 43 years, SE = 14.2, range = 13-71) by grading their clinical severity and their presumed calcium intake during childhood, adolescence, and adulthood. Overall severity in the study group varied greatly and correlated positively with age (P less than 0.001). Overall severity correlated positively with calcium ingestion as an adolescent (P less than 0.001, with the other predictor variables held constant). Overall cardiovascular and eye severity were a function of age (P less than 0.000001 for both), whereas skin severity was not. These results confirm that PXE is a highly variable condition that generally worsens with age and support the rationale for a clinical trial to determine the effects of different levels of dietary calcium ingestion in young PXE patients on their subsequent clinical course.

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Section: Discussionsupporting

confidence: 90%

Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity

et al. 1984

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“…Extra cardiac downstream effects of arterial mineralization include renovascular hypertension, gastrointestinal bleeding and central nervous system complications (such as stroke and dementia) [30,39].…”

Section: Cardiovascular Manifestationsmentioning

confidence: 99%

ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions

Shimada

Pomozi

Zoll

et al. 2021

IJMS

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Pathological (ectopic) mineralization of soft tissues occurs during aging, in several common conditions such as diabetes, hypercholesterolemia, and renal failure and in certain genetic disorders. Pseudoxanthoma elasticum (PXE), a multi-organ disease affecting dermal, ocular, and cardiovascular tissues, is a model for ectopic mineralization disorders. ABCC6 dysfunction is the primary cause of PXE, but also some cases of generalized arterial calcification of infancy (GACI). ABCC6 deficiency in mice underlies an inducible dystrophic cardiac calcification phenotype (DCC). These calcification diseases are part of a spectrum of mineralization disorders that also includes Calcification of Joints and Arteries (CALJA). Since the identification of ABCC6 as the “PXE gene” and the development of several animal models (mice, rat, and zebrafish), there has been significant progress in our understanding of the molecular genetics, the clinical phenotypes, and pathogenesis of these diseases, which share similarities with more common conditions with abnormal calcification. ABCC6 facilitates the cellular efflux of ATP, which is rapidly converted into inorganic pyrophosphate (PPi) and adenosine by the ectonucleotidases NPP1 and CD73 (NT5E). PPi is a potent endogenous inhibitor of calcification, whereas adenosine indirectly contributes to calcification inhibition by suppressing the synthesis of tissue non-specific alkaline phosphatase (TNAP). At present, therapies only exist to alleviate symptoms for both PXE and GACI; however, extensive studies have resulted in several novel approaches to treating PXE and GACI. This review seeks to summarize the role of ABCC6 in ectopic calcification in PXE and other calcification disorders, and discuss therapeutic strategies targeting various proteins in the pathway (ABCC6, NPP1, and TNAP) and direct inhibition of calcification via supplementation by various compounds.

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“…The pulse is feeble and compressible and gives with the sphygmometer of Verdin a tension of 650 rather than of 750, the average normal figure." I did not realise that this was the same case on which Darier had done histopathological studies in 1896 and that in 1903 Hallopeau and LafEitte described the changes in the fundus ocuU of the same case, imtil I read the paper by Eddy and Farber (1962). Their findings were chorioretinitis of the central region involviag the macula, with secondary atrophy of the optic disc.…”

mentioning

confidence: 90%

Pseudoxanthoma Elasticum.*

Gibbs¹

1964

Aust J Dermatology

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Pseudoxanthoma Elasticum

Cited by 61 publications

References 15 publications

Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity

Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity

ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions

Pseudoxanthoma Elasticum.*

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