"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
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| 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
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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 |
|---|
| 2008 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2021 | 3 | 0 | 3 |
| 2024 | 2 | 0 | 2 |
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Below are the most recent publications written about "Pseudoxanthoma Elasticum" by people in Profiles.
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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.
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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.
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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.
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Kowal L, Huang J, Luo H, Singh J, Snook AE, Uitto J, Li Q. Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. J Invest Dermatol. 2022 04; 142(4):1085-1093.
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Colucciello M. PNEUMATIC COMPACTION TREATMENT OF ACUTE SUBFOVEAL HEMORRHAGE AFTER BLUNT TRAUMA IN A PATIENT WITH ANGIOID STREAKS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM. Retin Cases Brief Rep. 2021 Jul 01; 15(4):344-347.
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Huang J, Snook AE, Uitto J, Li Q. Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders. J Invest Dermatol. 2019 06; 139(6):1254-1263.
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Vasquez G, Keimig W, Batillana G, Caballero J, Del Aguila J, Scavino Y. A curious case study. J Fam Pract. 2008 Dec; 57(12):812-6.
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Kim DD, Pulido JS, Wipplinger WA. Indocyanine green angiographic findings in pseudoxanthoma elasticum. Am J Ophthalmol. 1993 Dec 15; 116(6):767-9.