"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.
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
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| 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 |
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".
Below are MeSH descriptors whose meaning is more specific than "Pseudoxanthoma Elasticum".
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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2019 | 0 | 1 | 1 |
| 2020 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Pseudoxanthoma Elasticum" by people in Profiles.
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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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Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort. Genet Med. 2022 01; 24(1):75-86.
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GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. Br J Dermatol. 2021 06; 184(6):1170-1174.
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Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum. J Invest Dermatol. 2019 12; 139(12):2447-2457.e7.
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Classic pseudoxanthoma elasticum in a girl with sickle cell disease. Pediatr Dermatol. 2019 Jan; 36(1):e64-e65.
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Pseudoxanthoma Elasticum-Like in ?-Thalassemia Major, a matter of a-Klotho and Parathyroid Hormone? Hemoglobin. 2017 Jul - Nov; 41(4-6):254-259.
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Pseudoxanthoma elasticum-like change adjacent to a benign adnexal neoplasm: a histopathologic reaction pattern. Am J Dermatopathol. 2015 Feb; 37(2):157-9.