Results 11 to 20 of about 8,705 (254)

Genotype-phenotype correlation in pseudoxanthoma elasticum.

Atherosclerosis, 2021
BACKGROUND AND AIMS Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability.
J. Bartstra, S. Risseeuw, P. D. de Jong, Bram W. van Os, L. Kalsbeek, C. Mol, A. Baas, Shana Verschuere, O. Vanakker, R. Florijn, J. Hendrikse, W. Mali, S. Imhof, J. Ossewaarde-van Norel, R. van Leeuwen, W. Spiering   +15 more
semanticscholar   +3 more sources

Heterozygous ABCC6 mutation in a patient with sickle cell disease: Pseudoxanthoma elasticum or pseudoxanthoma elasticum-like phenotype? [PDF]

JAAD Case Reports
José Cuesta Camuñas, MD, Bianca C. Rodríguez Martínez, MD, Fabiola Pabón-González, MD, Melanie Medina-Figueroa, MD, MBA, Rafael Martin, MD   +4 more
doaj   +2 more sources

Pseudoxanthoma elasticum-like papillary dermal elastolysis in non-exposed skin, [PDF]

Anais Brasileiros de Dermatologia, 2020
Pseudoxanthoma elasticum-like papillary dermal elastolysis is an acquired elastic tissue disorder clinically similar to pseudoxanthoma elasticum in the absence of systemic involvement.
Nuria Setó-Torrent, Maribel Iglesias-Sancho, Jorge Arandes-Marcocci, María Teresa Fernández-Figueras   +3 more
doaj   +1 more source

Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype

Journal of Clinical Medicine, 2023
Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification disorder affecting soft connective tissues that is caused by biallelic ABCC6 mutations.
M. Van Gils, Justin Depauw, P. Coucke, Shari Aerts, Shana Verschuere, L. Nollet, O. Vanakker   +6 more
semanticscholar   +1 more source

Multimodal imaging in Angioid streaks with Pseudoxanthoma elasticum : a case report

Bhutan Health Journal, 2022
Angioid streaks refer to dehiscence in the Bruch’s membrane- retinal pigment epithelium complex. It appear as dark to brownish streaks radiating from optic nerve on funduscopy.
Phuntsho Dorji, Sushma Jayanama, Sandip Tamang, Birendra Pradhan   +3 more
doaj   +1 more source

Pseudoxanthoma elasticum [PDF]

British Journal of Oral and Maxillofacial Surgery, 2008
We report a case of pseudoxanthoma elasticum in a 44-year-old Afro-Caribbean woman who presented with excessive wrinkling and loosening of the skin of the neck. She was treated by platysmoplasty and bilateral neck lift followed by latent excision of nuchal skin folds.
Harith, Akram, Mathew D, Sewell, Leo H H, Cheng   +2 more
  +7 more sources

Choriocapillaris Flow Signal Impairment in Patients With Pseudoxanthoma Elasticum

Investigative Ophthalmology and Visual Science, 2023
Purpose To quantify choriocapillaris flow alterations in patients with pseudoxanthoma elasticum (PXE) in pre-atrophic stages and its association with structural changes of the choroid and outer retina.
Anne-Sophie Loewinger, M. Pfau, P. Herrmann, F. Holz, Kristina Pfau   +4 more
semanticscholar   +1 more source

Epidemiology of Angioid Streaks and Pseudoxanthoma Elasticum (2011–2020)

Ophthalmology Science, 2023
Purpose We aimed to describe the epidemiology of angioid streaks (AS) and pseudoxanthoma elasticum (PXE), which are rare diseases, using a national claims database. Design This was a population-based longitudinal cohort study. Participants A total of 126
Saori Wada, M. Miyake, Ai Kido, T. Kamei, S. Hiragi, H. Ikeda, M. Hata, H. Ueshima, A. Tsujikawa, H. Tamura   +9 more
semanticscholar   +1 more source

Relationships between Plasma Pyrophosphate, Vascular Calcification and Clinical Severity in Patients Affected by Pseudoxanthoma Elasticum

Journal of Clinical Medicine, 2022
Pseudoxanthoma elasticum (PXE; OMIM 264800) is an autosomal recessive metabolic disorder characterized by progressive calcification in the skin, the Bruch’s membrane, and the vasculature.
G. Leftheriotis, N. Navasiolava, Laetitia Clotaire, C. Duranton, O. Le Saux, S. Bendahhou, A. Laurain, I. Rubera, Ludovic Martin   +8 more
semanticscholar   +1 more source

INZ‐701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6−/− mouse model of pseudoxanthoma elasticum

Experimental Dermatology, 2022
Pseudoxanthoma elasticum (PXE), a heritable multisystem ectopic calcification disorder, is predominantly caused by inactivating mutations in ABCC6. The encoded protein, ABCC6, is a hepatic efflux transporter and a key regulator of extracellular inorganic
I. Jacobs, Zhiliang Cheng, D. Ralph, K. O’Brien, Lisa Flaman, J. Howe, David Thompson, J. Uitto, Qiaoli Li, Y. Sabbagh   +9 more
semanticscholar   +1 more source