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 28 publications over 17 distinct years, with a maximum of 4 publications in 2018

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

Year	Major Topic	Minor Topic	Total
1999	1	0	1
2000	1	0	1
2002	2	0	2
2003	1	0	1
2006	1	0	1
2008	1	0	1
2009	1	0	1
2010	1	0	1
2011	3	0	3
2012	0	1	1
2013	2	0	2
2014	2	0	2
2016	1	0	1
2017	3	0	3
2018	3	1	4
2021	1	1	2
2024	1	0	1

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

Brampton C, Pomozi V, Le Corre Y, Zoll J, Kauffenstein G, Ma C, Hoffmann PR, Martin L, Le Saux O. Bone Marrow-Derived ABCC6 Is an Essential Regulator of Ectopic Calcification In Pseudoxanthoma Elasticum. J Invest Dermatol. 2024 Aug; 144(8):1772-1783.e3.

View in: PubMed
Shimada BK, Pomozi V, Zoll J, Kuo S, Martin L, Le Saux O. ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions. Int J Mol Sci. 2021 Apr 27; 22(9).

View in: PubMed
Brampton C, Pomozi V, Chen LH, Apana A, McCurdy S, Zoll J, Boisvert WA, Lambert G, Henrion D, Blanchard S, Kuo S, Leftheriotis G, Martin L, Le Saux O. ABCC6 deficiency promotes dyslipidemia and atherosclerosis. Sci Rep. 2021 02 16; 11(1):3881.

View in: PubMed
Pomozi V, Julian CB, Zoll J, Pham K, Kuo S, Tok?si N, Martin L, V?radi A, Le Saux O. Dietary Pyrophosphate Modulates Calcification in a Mouse Model of Pseudoxanthoma Elasticum: Implication for Treatment of Patients. J Invest Dermatol. 2019 05; 139(5):1082-1088.

View in: PubMed
De Vilder EYG, Cardoen S, Hosen MJ, Le Saux O, De Zaeytijd J, Leroy BP, De Reuck J, Coucke PJ, De Paepe A, Hemelsoet D, Vanakker OM. Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke. Brain Pathol. 2018 11; 28(6):822-831.

View in: PubMed
Letavernier E, Kauffenstein G, Huguet L, Navasiolava N, Bouderlique E, Tang E, Delaitre L, Bazin D, de Frutos M, Gay C, Perez J, Verpont MC, Haymann JP, Pomozi V, Zoll J, Le Saux O, Daudon M, Leftheriotis G, Martin L. ABCC6 Deficiency Promotes Development of Randall Plaque. J Am Soc Nephrol. 2018 09; 29(9):2337-2347.

View in: PubMed
Kauffenstein G, Yegutkin GG, Khiati S, Pomozi V, Le Saux O, Leftheriotis G, Lenaers G, Henrion D, Martin L. Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum. J Invest Dermatol. 2018 08; 138(8):1862-1870.

View in: PubMed
Dedinszki D, Szeri F, Koz?k E, Pomozi V, Tok?si N, Mezei TR, Merczel K, Letavernier E, Tang E, Le Saux O, Ar?nyi T, van de Wetering K, V?radi A. Oral administration of pyrophosphate inhibits connective tissue calcification. EMBO Mol Med. 2017 11; 9(11):1463-1470.

View in: PubMed
Favre G, Laurain A, Aranyi T, Szeri F, Fulop K, Le Saux O, Duranton C, Kauffenstein G, Martin L, Lefth?riotis G. The ABCC6 Transporter: A New Player in Biomineralization. Int J Mol Sci. 2017 Sep 11; 18(9).

View in: PubMed
Pomozi V, Brampton C, van de Wetering K, Zoll J, Calio B, Pham K, Owens JB, Marh J, Moisyadi S, V?radi A, Martin L, Bauer C, Erdmann J, Aherrahrou Z, Le Saux O. Pyrophosphate Supplementation Prevents Chronic and Acute Calcification in ABCC6-Deficient Mice. Am J Pathol. 2017 Jun; 187(6):1258-1272.

View in: PubMed

People

Explore

Similar Concepts

Top Journals