The Experts below are selected from a list of 255 Experts worldwide ranked by ideXlab platform
Olívia Bordalo - One of the best experts on this subject based on the ideXlab platform.
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Pseudoxanthoma Elasticum Papillary Dermal Elastolysis: A Case Report
Dermatology research and practice, 2010Co-Authors: Rubina Alves, Lurdes Ferreira, Esmeralda Vale, Olívia BordaloAbstract:PXE-PDE is a rare clinicopathological entity with few cases reported. It affects more often elderly women and is characterized by asymptomatic bilateral and symmetrical yellowish papules localized predominantly on the neck and supraclavicular regions. It is clinically similar to Pseudoxanthoma Elasticum. The authors report a case of a 64-year-old woman presenting asymptomatic, yellowish, non-follicular papules, affecting the occipital and the posterior region of the neck for 1 year. The patient denied pruritic or inflammatory changes, marked solar exposition or trauma on the affected areas. Routine laboratory studies: thoracic x-ray and ophthalmologic examination were normal. The histopathologic examination of a biopsy of one of the cutaneous lesions showed an absence of elastic fibers in the papillary dermis.The diagnosis of Pseudoxanthoma Elasticum—like Papillary Dermal Elastolysis (PXE-PDE) was made. Of great importance is the differential diagnosis with Pseudoxanthoma Elasticum (PXE), but we have also to consider other elastolytic disorders: mid-dermal elastolysis (MDE), linear focal elastosis (LFE) and white fibrous papulosis of the neck (WFPN). Until know, there is no effective treatment for this pathology.
Jouni Uitto - One of the best experts on this subject based on the ideXlab platform.
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Zebrafish Models of Ectopic Mineralization—The Paradigm of Pseudoxanthoma Elasticum
The Journal of investigative dermatology, 2018Co-Authors: Jouni UittoAbstract:Zebrafish represent a powerful model system with which to study human biology and pathology. Recently developed CRISPR/Cas9 technology enables genetic manipulation with precision. Using CRISPR/Cas9 methodology, van Gils et al. generated knockout zebrafish for abcc6a, the orthologue of human ABCC6 that is mutated in Pseudoxanthoma Elasticum. Although similarities exist between this and other abcc6a zebrafish models, none fully recapitulate phenotypes of human Pseudoxanthoma Elasticum.
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abcc6 knockout rat model highlights the role of liver in ppi homeostasis in Pseudoxanthoma Elasticum
Journal of Investigative Dermatology, 2017Co-Authors: Joshua Kingman, Koen Van De Wetering, Sami Tannouri, John P Sundberg, Jouni UittoAbstract:Pseudoxanthoma Elasticum, a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver and the kidneys. The fundamental question on pathogenesis of Pseudoxanthoma Elasticum, whether lack of ABCC6 expression in liver or kidney is the primary site of molecular pathology in peripheral tissues, has not been addressed. We generated a series of Abcc6−/− rats as models of Pseudoxanthoma Elasticum depicting ectopic mineralization in the skin, eyes, and the arterial blood vessels. Plasma inorganic pyrophosphate (PPi) level was reduced (
Fabiola Dapena - One of the best experts on this subject based on the ideXlab platform.
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Pseudoxanthoma Elasticum and Cardiorenal Disease: A Case Report
European journal of case reports in internal medicine, 2019Co-Authors: Luis D'marco, Carlos Soto, Fabiola DapenaAbstract:Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder characterized by calcification of elastic fibres, skin lesions, fundus lesions and systemic vascular complications. PXE affects approximately 1 in 160,000 people, typically appearing as a formation of yellow papules containing abnormally calcified elastic fibres. The renal involvement of PXE has been reported. Several factors are known to promote soft tissue and accelerated arterial calcification in chronic kidney disease, including systemic inflammation, altered calcium and phosphate homeostasis, hypertension and a deficiency of endogenous calcification inhibitors. Given the impact of this disease, nephrologists may seek additional supportive features to improve and avoid the risk of complications. Moreover, PXE per se represents an interesting model to evaluate vascular disease in the early stages of renal disease. Learning points Pseudoxanthoma Elasticum represents a rare disease that can involve renal problems.Vascular compromise in patients affected by Pseudoxanthoma Elasticum shares some components observed in patients with chronic kidney disease.Disorders of mineral and bone metabolism may coexist or be hidden in patients with Pseudoxanthoma Elasticum.
Astrid S. Plomp - One of the best experts on this subject based on the ideXlab platform.
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Clinical and genetic aspects of Pseudoxanthoma Elasticum
2009Co-Authors: Astrid S. PlompAbstract:Pseudoxanthoma Elasticum is an autosomally inherited disorder that is associated with the accumulation of mineralized and fragmented elastic bers in the skin, Bruch’s membrane in the retina, and vessel walls. The ophthalmic and dermatologic expression of Pseudoxanthoma Elasticum and its vascular complications are heterogeneous, with considerable variation in phenotype, progression, and mode of inheritance. Using linkage analysis and mutation detection techniques, mutations in the ABCC6 gene were recently implicated in the etiology of Pseudoxanthoma Elasticum. ABCC6 encodes the sixth member of the ATP-binding cassette transporter and multidrug resistance protein family (MRP6). In humans, this transmembrane protein is highly expressed in the liver and kidney. Lower expression was found in tissues a ected by Pseudoxanthoma Elasticum, including skin, retina, and vessel walls. So far, the substrates transported by the ABCC6 protein and its physiological role in the etiology of Pseudoxanthoma Elasticum are not known. A functional transport study of rat MRP6 suggests that small peptides such as the endothelin receptor antagonist BQ123 are transported by MRP6. Similar molecules transported by ABCC6 in humans may be essential for extracellular matrix deposition or turnover of connective tissue at speci c sites in the body. One of these sites is Bruch’s membrane. This review is an update on etiology of Pseudoxanthoma Elasticum, including its clinical and genetic features, pathogenesis, and biomolecular basis.
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Pseudoxanthoma Elasticum: a clinical, histopathological, and molecular update.
Survey of ophthalmology, 2003Co-Authors: Astrid S. Plomp, Simone Van Soest, Jan Wijnholds, Paulus T. V. M. De Jong, Arthur A.b. BergenAbstract:Pseudoxanthoma Elasticum is an autosomally inherited disorder that is associated with the accumulation of mineralized and fragmented elastic fibers in the skin, Bruch's membrane in the retina, and vessel walls. The ophthalmic and dermatologic expression of Pseudoxanthoma Elasticum and its vascular complications are heterogeneous, with considerable variation in phenotype, progression, and mode of inheritance. Using linkage analysis and mutation detection techniques, mutations in the ABCC6 gene were recently implicated in the etiology of Pseudoxanthoma Elasticum. ABCC6 encodes the sixth member of the ATP-binding cassette transporter and multidrug resistance protein family (MRP6). In humans, this transmembrane protein is highly expressed in the liver and kidney. Lower expression was found in tissues affected by Pseudoxanthoma Elasticum, including skin, retina, and vessel walls. So far, the substrates transported by the ABCC6 protein and its physiological role in the etiology of Pseudoxanthoma Elasticum are not known. A functional transport study of rat MRP6 suggests that small peptides such as the endothelin receptor antagonist BQ123 are transported by MRP6. Similar molecules transported by ABCC6 in humans may be essential for extracellular matrix deposition or turnover of connective tissue at specific sites in the body. One of these sites is Bruch's membrane. This review is an update on etiology of Pseudoxanthoma Elasticum, including its clinical and genetic features, pathogenesis, and biomolecular basis.
A. Castells‐rodellas - One of the best experts on this subject based on the ideXlab platform.
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Pseudoxanthoma Elasticum and β–δ thalassaemia
Journal of the European Academy of Dermatology and Venereology, 1994Co-Authors: L. Rodriguez–cano, J. Luelmo‐aguilar, C. Mieras-barcelo, F. Salvador‐rodriguez, A. Castells‐rodellasAbstract:A case of β–δ thalassaemia and Pseudoxanthoma Elasticum without angioid streaks is reported. To the best of our knowledge, this association has not been reported previously. The possible pathogenic mechanisms of Pseudoxanthoma Elasticum in relation to chronic hemolytic diseases are discussed.
