Pseudoxanthoma Elasticum

"Pseudoxanthoma Elasticum" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.

Descriptor ID	D011561
MeSH Number(s)	C14.907.454.530 C15.378.463.515.530 C16.131.831.766 C16.320.850.750 C17.300.766 C17.800.804.766 C17.800.827.750
Concept/Terms	Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum Gronblad-Strandberg Syndrome Gronblad-Strandberg Syndrome Gronblad Strandberg Syndrome Syndrome, Gronblad-Strandberg Groenblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Incomplete Pseudoxanthoma Elasticum, Incomplete Elasticum, Incomplete Pseudoxanthoma Elasticums, Incomplete Pseudoxanthoma Incomplete Pseudoxanthoma Elasticum Incomplete Pseudoxanthoma Elasticums Pseudoxanthoma Elasticums, Incomplete Pseudoxanthoma Elasticum, Autosomal Dominant Pseudoxanthoma Elasticum, Forme Fruste

Below are MeSH descriptors whose meaning is more general than "Pseudoxanthoma Elasticum".

Diseases [C]
Cardiovascular Diseases [C14]
Vascular Diseases [C14.907]
Hemostatic Disorders [C14.907.454]
Pseudoxanthoma Elasticum [C14.907.454.530]
Hemic and Lymphatic Diseases [C15]
Hematologic Diseases [C15.378]
Hemorrhagic Disorders [C15.378.463]
Hemostatic Disorders [C15.378.463.515]
Pseudoxanthoma Elasticum [C15.378.463.515.530]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Skin Abnormalities [C16.131.831]
Pseudoxanthoma Elasticum [C16.131.831.766]
Genetic Diseases, Inborn [C16.320]
Skin Diseases, Genetic [C16.320.850]
Pseudoxanthoma Elasticum [C16.320.850.750]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Pseudoxanthoma Elasticum [C17.300.766]
Skin Diseases [C17.800]
Skin Abnormalities [C17.800.804]
Pseudoxanthoma Elasticum [C17.800.804.766]
Skin Diseases, Genetic [C17.800.827]
Pseudoxanthoma Elasticum [C17.800.827.750]

Below are MeSH descriptors whose meaning is related to "Pseudoxanthoma Elasticum".

Below are MeSH descriptors whose meaning is more specific than "Pseudoxanthoma Elasticum".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Pseudoxanthoma Elasticum" by people in this website by year, and whether "Pseudoxanthoma Elasticum" was a major or minor topic of these publications.

Bar chart showing 88 publications over 22 distinct years, with a maximum of 11 publications in 2013

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2002	1	0	1
2004	1	0	1
2005	2	1	3
2006	2	0	2
2007	8	0	8
2008	6	1	7
2009	4	0	4
2010	4	1	5
2011	5	0	5
2012	7	0	7
2013	10	1	11
2014	2	0	2
2015	5	0	5
2016	1	0	1
2017	4	0	4
2018	5	0	5
2019	1	1	2
2020	1	0	1
2021	5	0	5
2022	6	0	6
2023	1	0	1
2024	2	0	2

Below are the most recent publications written about "Pseudoxanthoma Elasticum" by people in Profiles.

Jacobs IJ, Obiri-Yeboah D, Stabach PR, Braddock DT, Li Q. Novel treatment for PXE: Recombinant ENPP1 enzyme therapy. Mol Ther. 2024 11 06; 32(11):3815-3820.

View in: PubMed
Sehgal A, Milman T, Li Q, Pulido JS. Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum. Transl Vis Sci Technol. 2024 04 02; 13(4):29.

View in: PubMed
Jacobs IJ, Li Q. Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification. Int J Mol Sci. 2023 Oct 10; 24(20).

View in: PubMed
Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T. The 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. Hum Mutat. 2022 12; 43(12):1872-1881.

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Jacobs IJ, Cheng Z, Ralph D, O'Brien K, Flaman L, Howe J, Thompson D, Uitto J, Li Q, Sabbagh Y. INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum. Exp Dermatol. 2022 07; 31(7):1095-1101.

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Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification. PLoS Genet. 2022 04; 18(4):e1010192.

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Li Q, Terry SF, Uitto J. Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis. J Dermatol. 2022 07; 49(7):e248-e249.

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Ralph D, van de Wetering K, Uitto J, Li Q. Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification. Am J Pathol. 2022 05; 192(5):762-770.

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Huang J, Ralph D, Boraldi F, Quaglino D, Uitto J, Li Q. Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum. J Invest Dermatol. 2022 08; 142(8):2140-2148.e1.

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Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q. Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort. Genet Med. 2022 01; 24(1):75-86.

View in: PubMed

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