Infobox disease Name Pseudoxanthomaelasticum Image Pseudoxanthomaelasticum 3.JPG Caption Pseudoxanthoma ... derm eMedicineTopic 359 eMedicine mult eMedicine2 oph 475 MeshID D011561 Pseudoxanthomaelasticum ... M, Hovnanian A title Pseudoxanthomaelasticum a clinical, pathophysiological and genetic update including ... Finger RP, Charbel Issa P, Ladewig MS, et al. title Pseudoxanthomaelasticum genetics, clinical manifestations ... ultrastructural alterations in pseudoxanthomaelasticum journal Ultrastructural pathology volume ... title Pseudoxanthomaelasticum clinical phenotypes, molecular genetics and putative pathomechanisms ... j.1600 0625.2008.00795.x ref Genetics Image autorecessive.svg thumb right Pseudoxanthomaelasticum has an autosomal recessive pattern of inheritance. 80 of clinical cases of pseudoxanthomaelasticum ... AM, Uitto J title Pseudoxanthomaelasticum mutations in the MRP6 gene encoding a transmembrane ... Mutations in ABCC6 cause pseudoxanthomaelasticum journal Nat. Genet. volume 25 issue 2 pages 228 ... in a gene encoding an ABC transporter cause pseudoxanthomaelasticum journal Nat. Genet. volume ... of the gene encoding the transmembrane transporter protein ABC C6 cause pseudoxanthomaelasticum ... gene of German patients with pseudoxanthomaelasticum journal Hum. Biol. volume 77 issue 3 pages ... affected by pseudoxanthomaelasticum journal J. Med. Genet. volume 44 issue 10 pages 621 8 year ... D, Terry SF, Coucke PJ, Pasquali Ronchetti I, De Paepe A. title Pseudoxanthomaelasticum like phenotype ... Epidemiology The reported prevalence of pseudoxanthomaelasticum is about 1 25,000. Females are twice ... in 1896. ref cite journal author Darrier FJ year 1896 title Pseudoxanthomaelasticum journal Monatschr .... ref name LeSaux The Terrys two children have pseudoxanthomaelasticum. ref cite journal author Terry ... elasticum 1.JPG Pseudoxanthomaelasticum of the posterior lateral neck. Image Pseudoxanthomaelasticum 2.JPG Pseudoxanthomaelasticum of the left axillary fold. gallery See also List of cutaneous conditions ... more details
Summary Information Description Pseudoxanthomaelasticum of the posterior lateral neck. Source I User Kilbad kilbad User talk Kilbad talk created this work entirely by myself. Date 22 32, 27 February 2010 UTC Author User Kilbad kilbad User talk Kilbad talk other versions Licensing self cc by 3.0 Copy to Wikimedia Commons bot Fbot priority true ... more details
Summary Information Description Pseudoxanthomaelasticum of the posterior lateral neck. Source I User Kilbad kilbad User talk Kilbad talk created this work entirely by myself. Date 22 34, 27 February 2010 UTC Author User Kilbad kilbad User talk Kilbad talk other versions Licensing self cc by 3.0 Copy to Wikimedia Commons bot Fbot priority true ... more details
Summary Information Description Pseudoxanthomaelasticum of the left axillary fold. Source I User Kilbad kilbad User talk Kilbad talk created this work entirely by myself. Date 22 35, 27 February 2010 UTC Author User Kilbad kilbad User talk Kilbad talk other versions Licensing self cc by 3.0 Copy to Wikimedia Commons bot Fbot priority true ... more details
PXE may stand for Peer exchange , a decentralized file sharing strategy Preboot Execution Environment , an environment to bootstrap computers using a network interface card Pseudoxanthoma elasticum , a genetic disease Process execution engine, an open source BPEL implementation Proof and Experimental Establishment , an Indian national defence laboratory under DRDO, located in Balasore disambig de PXE fr PXE ko PXE it PXE ... more details
Perforating calcific elastosis also known as Localized acquired cutaneous pseudoxanthomaelasticum, Perforating periumbilical calcific elastosis, ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 oclc doi accessdate ref and Periumbilical perforating pseudoxanthomaelasticum is an acquired, localized cutaneous disorder, most frequently found in obese, multiparous, middle aged women, characterized by lax, well circumscribed, reticulated or cobble stoned plaques occurring in the periumbilical region with keratotic surface papules. ref name Andrews James, William Berger, Timothy Elston, Dirk 2005 . Andrews Diseases of the Skin Clinical Dermatology . 10th ed. . Saunders. Page 512. ISBN 0 7216 2921 0. ref See also List of cutaneous conditions References reflist Cutaneous condition stub Category Abnormalities of dermal fibrous and elastic tissue ... more details
The French language French term peau d orange means orange peel skin , or more literally, skin of an orange . It is used in medicine to describe anatomy with the appearance and dimpled texture of an Orange fruit orange peel. Examples include the skin of the breast in inflammatory breast cancer , or breaks in Bruch s membrane Bruch s Membrane called angioid streaks , which are common in pseudoxanthoma elasticum , or in elephantiasis caused by thread like, microscopic parasitic worms filariasis . Peau d orange can be also seen with myxedema of Grave s disease , where the term refers more to the texture than the color. External links http www.djo.harvard.edu print.php?url physicians kr 501 Category Medical signs med sign stub ... more details
issn pmc 2150375 ref Pathology Mutations in this protein cause pseudoxanthomaelasticum PXE . ref ... Mutations in a gene encoding an ABC transporter cause pseudoxanthomaelasticum journal Nat. Genet ... of ABCC6 mutations is responsible for pseudoxanthomaelasticum journal Am. J. Hum. Genet. volume ... Case Series Affected by PseudoxanthomaElasticum journal Journal of Medical Genetics volume ... GeneReviews NIH NCBI UW entry on PseudoxanthomaElasticum MeshName ABCC6 protein, human http www.enzim.hu ... more details
notability Biographies date March 2011 Primary sources date August 2010 BLP sources date August 2010 Infobox person name Sharon F. Terry image SharonTerry2007.jpg image size 125px birth date birth date and age 1956 11 16 occupation health care advocate education State University of New York at Stony Brook , Assumption College Sharon F. Terry born November 16, 1956 in Waterbury , Connecticut is a health advocate. She co founded PXE International when her children were diagnosed with pseudoxanthoma elasticum PXE in 1994. In 2009, she was elected an Ashoka Fellow ref cite web author Sharon Terry url http usa.ashoka.org fellow sharon terry title Sharon Terry & 124 Ashoka United States publisher Usa.ashoka.org date accessdate 2011 03 05 ref for her entrepreneurial work in drug development for genetic conditions. Professional background She is the current President and CEO of Genetic Alliance . ref cite web url http www.geneticalliance.org bio.terry title Sharon Terry publisher Genetic Alliance date accessdate 2011 03 05 ref , and Executive Director of PXE International, ref http www.pxe.org ref a research organization for the genetic disorder pseudoxanthoma elasticum PXE . She was co founder of the Genetic Alliance Registry and Biobank . ref cite web url http wikiadvocacy.org index.php Genetic Alliance BioBank title Genetic Alliance BioBank publisher WikiAdvocacy date 2010 06 11 accessdate 2011 03 05 ref She is the chair of the Coalition for Genetic Fairness that advocated for the passage of the Genetic Information Nondiscrimination Act . ref cite web url http www.genome.gov 27528106 title All About the Genetic Information Non Discrimination Act of 2008 GINA publisher Genome.gov date accessdate 2011 03 05 ref She is on the Secretary s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children and the National Advisory Council for Human Genome Research, is associated with the National Human Genome Research Institute . She also serves on the bo ... more details
. Senile degenerative changes may be accompanied by calcification. The inherited disorder pseudoxanthomaelasticum may lead to angioid streaks with calcification of Bruch s membrane , the elastic tissue ... more details
Angioid streaks , also called Knapp streaks or Knapp striae are small breaks in Bruch s membrane , an elastic Tissue biology tissue containing membrane of the retina that can become calcified and crack. They were first described by Robert Walter Doyne in 1889 in a patient with retina l hemorrhages. A few years later, ophthalmologist Hermann Jakob Knapp called them angioid streaks because of their resemblance to blood vessels . From histopathology histopathological research in the 1930s, they were discovered to be caused by changes at the level of Bruch s Biological membrane membrane . Presently, it is believed that its pathology may be a combination of elastic degeneration of Bruch s membrane, iron deposition in elastic fibers from hemolysis with secondary mineralization, and impaired nutrition due to stasis medicine stasis and small vessel Vascular occlusion occlusion . Angioid streaks are often associated with pseudoxanthoma elasticum PXE , but have been found to occur in conjunction with other disorders, including Paget s disease of bone Paget s disease , sickle cell anemia and Ehlers Danlos Syndrome . These streaks can have a negative impact on vision due to choroid al neovascularization or choroidal rupture. Also, Visual perception vision can be impaired if the streaks progress to the fovea and damage the retinal pigment epithelium . References http www.emedicine.com oph topic378.htm eMedicine article on Angioid streaks http www.pxe.org virtpat docs eyes streaks.html Photos of Angioid streaks Category Diseases of the eye and adnexa Angioid streaks Eye stub ar ... more details
Pseudodominance is the situation in which the inheritance of an autosomal recessive trait mimics an autosomal dominant pattern. ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages 699 isbn 1 4160 2999 0 oclc doi accessdate ref ref http www.integrativepractitioner.net article ektid15818.aspx Curly hair ankyloblepharon nail dysplasia Integrative Practitioner ref The pattern of inheritance in which the recessive allele could give its expression in absence of its dominant allele is known as pseudodominance. Haemophilia and colour blindness are the genetic disease due to X linked recessive allele giving their expression in human male is pseudodominance and in human female is dominance. Pseudodominance also observed in autosomal recessive condition in subsequent generations .This could happen in the case of loss of genetic material from one homolog bearing the dominant allele. The heterozygous condition is therefore lost at that particular locus and the recessive phenotype is revealed. See also Central dogma of molecular biology Note Hemophilia and Colorblindness are sex linked RECESSIVE traits. References reflist External links http www.nature.com jid journal v126 n4 full 5700115a.html Pseudoxanthoma Elasticum Is a Recessive Disease Characterized by Compound Heterozygosity Journal of Investigative Dermatology http www.genetics.org cgi reprint 137 3 855.pdf Molecular Genetics of the Brown b Locus Region of Mouse Chromosome Complementation Analyses of Lethal Brown Deletions Genetics Society of America http www.accessmedicine.com content.aspx?aid 2976229 Alkaptonuria Access Medicine genetics stub Category Autosomal recessive disorders ... more details
Unreferenced date December 2006 Infobox Anatomy Name Bruch& 39 s membrane Latin lamina basalis choroideae GraySubject GrayPage Image Caption Image2 Caption2 Map MapPos MapCaption Precursor System Artery Vein Nerve Lymph MeshName Bruch membrane MeshNumber DorlandsPre l 02 DorlandsSuf 12475917 Bruch s membrane is the innermost layer of the choroid . It is also called the vitreous lamina , because of its glassy microscopic appearance. It is 2 4 m thick. Layers Bruch s membrane consists of five layers from inside to outside the basement membrane of the retinal pigment epithelium the inner collagenous zone a central band of elastic fibers the outer collagenous zone the basement membrane of the choriocapillaris The retinal pigment epithelium transports metabolic waste from the Photoreceptor cell photoreceptors across Bruch s membrane to the choroid. Embryology Bruch s membrane is present by midterm in fetal development as an elastic sheet. Pathology Bruch s membrane thickens with age slowing the transport of metabolites. This may lead to the formation of drusen in age related macular degeneration . There is also a build up of deposits B asal Lin ear D eposits or BLinD and B asal Lam ellar D eposits BLamD on and within the membrane, primarily consisting of phospholipids. The accumulation of lipids appears to be greater in the central fundus than in the periphery. This build up seems to fragment the membrane into a lamellar structure more like puff pastry than a barrier. Inflammatory and neovascular mediators can then invite choroidal vessels to grow into and beyond the fragmented membrane. This neovascular membrane destroys the architecture of the outer retina and leads to sudden loss of central vision wet age related macular degeneration . Pseudoxanthoma elasticum , myopia and trauma can also cause defects in Bruch s membrane which may lead to choroid choroidal neovascularization . Alport s Syndrome , a genetic disorder affecting the alpha IV collagen chains, can also le ... more details
Choroidal neovascularization CNV is the creation of new blood vessels in the choroid layer of the human eye eye . This is a common symptom of the degenerative maculopathy wet AMD age related macular degeneration . ref cite book author Spalton DJ, Hitchings RA, Hunter PA title Atlas of Clinical Ophthalmology edition 3rd Edition year 2005 ref Causes CNV can occur rapidly in individuals with defects in Bruch s membrane , the innermost layer of the choroid . It is also associated with excessive amounts of Vascular endothelial growth factor VEGF . As well as in wet AMD, CNV can also occur frequently with the rare genetic disease pseudoxanthoma elasticum and rarely with the more common optic disc drusen . CNV has also been associated with extreme myopia or malignant myopic degeneration, where in choroidal neovascularization occurs primarily in the presence of cracks within the retinal specifically macular tissue known as lacquer cracks. Symptoms CNV can create a sudden deterioration of central vision, noticeable within a few weeks. Other symptoms which can occur include metamorphopsia, and colour disturbances. Hemorrhaging of the new blood vessels can accelerate the onset of symptoms of CNV. Signs CNV can be detected by measuring the Preferential Hyperacuity Perimeter . ref http www.ophsource.org periodicals ophtha article S0161 6420 05 00815 8 abstract ref On the basis of fluorescein angiography, CNV may be described as classic or occult. Treatment Standard of care in retinology today are intravitreal injections of anti VEGF drugs to control neovascularization and reduce the area of fluid below the retinal pigment epithelium. These drugs are commonly known as Avastin and Lucentis, and although their effectiveness has been shown to significantly improve visual prognosis with CNV, the recurrence rate for these neovascular areas remains high. Individuals with CNV should be aware that they are at a much greater risk 25 of developing CNV in fellow eye, this according to the A ... more details
and Pseudoxanthomaelasticum PXE like disorder with multiple coagulation factor deficiency. ref name ... BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali Ronchetti I, De Paepe A title Pseudoxanthomaelasticum like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate ... more details
genes cause higher serum XT I activity in patients with pseudoxanthomaelasticum ... journal author G tting C, Hendig D, Adam A, et al. title Elevated xylosyltransferase I activities in pseudoxanthomaelasticum PXE patients as a marker of stimulated proteoglycan biosynthesis. journal ... more details
TOCright This is a list of systemic diseases with ocular manifestations . An ocular manifestation of a systemic disease is an eye condition that directly or indirectly results from a disease process another part of the body. There are many diseases known to cause ocular or visual changes. Diabetes , for example, is the leading cause of new cases of blindness in those aged 20 74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80 of those who have had the disease for 15 years or more Citation needed date February 2007 . Other diseases such as AIDS acquired immunodeficiency syndrome AIDS and hypertension are commonly found to have associated ocular symptoms. Systemic allergic diseases Atopic dermatitis Atopic eczema Hay fever Asthma Urticaria Vernal conjunctivitis Skin and mucous membrane diseases Acne rosacea Albinism Atopic dermatitis Beh et s disease Pemphigoid Cicatricial pemphigoid Ehlers Danlos syndrome Epidermolysis bullosa Erythema multiforme Goltz Gorlin syndrome Ichthyosis Incontinentia pigmenti Nevus of Ota Pemphigus Pseudoxanthoma elasticum Psoriasis Stevens Johnson syndrome Erythema multiforme major Vogt Koyanagi Harada syndrome Xeroderma pigmentosum Phacomatoses Angiomatosis retinae Von Hippel Lindau disease Retinocerebellar Capillary Hemangiomatosis Ataxia telangiectasia Louis Bar syndrome Encephalotrigeminal Angiomatosis Encephalotrigeminal angiomatosis Sturge Weber syndrome Encephalofacial Cavernous Hemangiomatosis Neurofibromatosis von Recklinghausen s disease Tuberous sclerosis Bourneville s syndrome Wyburn Mason syndrome Racemose Hemangiomatosis Collagen diseases Ankylosing spondylitis Dermatomyositis Periarteritis nodosa Reiter s syndrome Rheumatoid arthritis Sarcoidosis Scleroderma Systemic lupus erythematosus Temporal arteritis Relapsing polychondritis Wegener s granulomatosis 50 60 have ophthalmologic manifestations, which can be a presenting feature in a minority of patients. Orbital disease is the mos ... more details
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