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Clinical Manifestations


PXE results in a variety of signs and symptoms. The number, type, and severity of signs of PXE vary from person to person. The effects of PXE may include: skin changes; changes in the retina of the eye that may result in significant loss of central vision; changes in the cardiovascular system that may involve calcification of arteries and decreased blood flow in the arms and legs or even the heart and brain; changes in the gastrointestinal system that may lead to bleeding in the stomach or intestines.

PXE often causes visible changes in the skin and the earliest changes are usually on the sides of one's neck. The areas of the body that are most affected are those which bend and flex. They may resemble a rash or have a "cobblestone" appearance. These lesions in the skin can progress slowly and unpredictably, from the neck downward. With time, the lesions can come together to form plaques, and the skin becomes loose and wrinkly.

PXE affects the retina of the eye, with the first change, visible only during an ophthalmologic examination with dilated pupils, being the peau d'orange appearance of the retina. This sign usually appears in childhood or early adolescence. Angioid streaks, breaks in the Bruch´s membrane, also appear during adolescence or early adulthood but neither peau d'orange nor angioid streaks directly affect the vision. However, small blood vessels beneath the Bruch´s membrane can take advantage of the breaks in the membrane and grow through the membrane, a process known as subretinal choroidal neovascularization (CNV). Sometimes these blood vessels leak blood, causing distortion and loss of central vision. While people with PXE may lose so much central vision that they become legally blind, almost all people with PXE continue to have peripheral vision.

PXE frequently causes mineralization in the elastic layers of medium-sized arteries. This causes narrowing of blood vessels, so affected individuals may have decreased blood flow to the extremities. This decreased flow of blood to the arms and legs may also cause intermittent claudication when walking or exercising. Arterial narrowing and reduced blood flow can also cause angina, heart attack, small strokes and intestinal angina. Very rarely, PXE may also cause acute upper gastrointestinal bleeding.

Additional general information about the clinical manifestations of PXE.
 


Primary Researchers


Lionel Bercovitch
Anne De Paepe
Qiujie Jiang
Mark Lebwohl
Georges Lefthériotis
Ludovic Martin
Ivonne Pasquali-Ronchetti
Ellen Pfendner
Daniela Quaglino
Jouni Uitto
Olivier Vanakker
 


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Dannepond C, Martin L, Kerdraon R, Croué A, Lebidre E, Estève E. Atypical eruptive collagenoma: Two cases. Ann Dermatol Venereol. 2012 Mar;139(3):209-15. PMID: 22401687

Siskos D, Giannakakis S, Makris S, Pirgakis K, Psyllas A, Maltezos C. Case report of a patient with iliac occlusive disease due to pseudoxantoma elasticum and review of the bibliography. Ann Vasc Surg. 2012 Feb;26(2):278. PMID: 22079464

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Lefthériotis G, Abraham P, Le Corre Y, Le Saux O, Henrion D, Ducluzeau Ph, Prunier F, Martin L. Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum. J Vasc Surg. 2011 Nov;54(5):1390-4. PMID: 21723076

Trélohan A, Martin L, Milea D, Bonicel P, Ebran JM. 4. Retinal lesions in pseudoxanthoma elasticum: 51 patients. J Fr Ophtalmol. 2011 Sep;34(7):456-67. PMID: 21722988

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Laktaoui A, Bouia Y, Louaya S, Zrara I, Termidi A, Fiqhi A, Zerrouk R, Kriet M. Semiology of chorioretinal lesions in association with thalassemia-pseudoxanthoma elasticum. J Fr Ophtalmol. 2011 Apr;34(4):275-8. PMID: 21411182

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Zweifel Sa, Imamura Y, Freund Kb, Spaide Rf. Multimodal fundus imaging of pseudoxanthoma elasticum. Retina. 2011 Mar;31(3):482-91. PMID: 20966826

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Keppler D. Multidrug resistance proteins (Mrps, Abccs): importance for pathophysiology and drug therapy. Handb Exp Pharmacol. 2011;(201):299-323. PMID: 21103974

Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom. 2010 Dec; 94(2):169-80. PMID: 21198842

Baglieri F, Scderi G. Pseudoxanthoma elasticum: Description of late onset case. Indian J Dermatol Venereol Leprol. 2010 Jul-Aug;76(4):448. PMID: 20657146

Charbel Issa P, Finger RP, Götting C, Hendig D, Holz FG, Scholl HPN. Centrifugal fundus abnormalities in sseudoxanthoma elasticum. Ophthalmology. 2010 Jul;117(7):1406-14. PMID: 20189652

Luft FC. Vascular calcification and magnesium. J Mol Med (Berl). 2010 May;88(5):437-9. PMID: 20300725

Pisciotta L, Tarugib P, Borrinia C, Bellocchioa, Fresaa R, Guerrab D, Quaglino DRonchetti I, Calandrab S, Bertolini S. Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors. Atherosclerosis. 2010 May;210(1):173–6. PMID: 20018285

Zaeytijd JD, Vanakker OM, Coucke PJ. Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum. Br J Ophthalmol. 2010 Apr;94(4):479-86. PMID: 19726431

Yaylali SA, Akcakaya AA, Erbil HH, Salar S, Karakurt Y. Optical coherence tomography findings in pseudoxanthoma elasticum. Eur J Ophthalmol. 2010 Mar-Apr;20(2):397-401. PMID: 19882544

Utani A, Tanioka M, Yamamoto Y, Taki R, Araki E, Tamura H, Miyachi Y. Relationship between the distribution of pseudoxanthoma elasticum skin and mucous membrane lesions and cardiovascular involvement. J Dermatol. 2010 Feb;37(2):130–6. PMID: 20175846

Thomas K. Lee M, Forooghian F, Cukras C, Wong WTChew EY, Meyerle CB. Complementary angiographic and autofluorescence findings in pseudoxanthoma elasticum. Int Ophthalmol. 2010 Feb ;30(1):77-9. Free article in PubMed. PMID: 18854947

Booij JC, Baas DC, Beisekeeva J, Gorgels TGMF, Bergen AAB. The dynamic nature of Bruch’s membrane. Prog Retin Eye Res. 2010 Jan;29(1):1-18. PMID: 19747980

Boulanger GL, Labr!eze C, Croue A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L. An unusual severe vascular case of pseudoxanthomaelasticum presenting as generalized arterial calcification of infancy. Am J Med Genet Part A. 2010 Jan;152A(1):118–23. PMID: 20034067

Alves R, Ferreira L, Vale E, Bordalo O. Pseudoxanthoma elasticum papillary dermal elastolysis: A case report. Dermatol Res Pract. 2010;2010. pii: 352724. Free article in PubMed. PMID: 20827433

Finger RP, Charbel Issa P, Ladewig MS, Götting C, Szliska C, Scholl HP, Holz FG. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol. 2009 Mar-Apr;54(2):272-85. PMID: 19298904

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Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6.  Free article at Journal Website. PMID: 17724214

Bhatnagar P, Freund KB, Spaide RF, Klancnik JM Jr, Cooney MJ, Ho I, Fine HF, Yannuzzi LA. Intravitreal bevacizumab for the management of choroidal neovascularization in pseudoxanthoma elasticum. Retina. 2007 Sep;27(7):897-902. PMID: 17891014

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Vanakker OM, Voet D, Petrovic M, van Robaeys F, Leroy BP, Coucke P, de Paepe A. Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers. Br J Radiol. 2006 Mar;79(939):221-5. Free article at Journal Website. PMID: 16498034

Bercovitch RS, Januario JA, Terry SF, Boekelheide K, Podis AD, Dupuy DE, Bercovitch LG. Testicular microlithiasis in association with pseudoxanthoma elasticum. Radiology. 2005 Nov;237(2):550-4.  Free article at Journal Website, Patient Summary. PMID: 16244264

Bercovitch L, Leroux T, Terry SF, Weinstock MA. Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum. Br J Dermatol. 2004 Nov;151(5):1011-8. Journal article, Patient Summary. PMID: 15541079

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Lebwohl M, Lebwohl E, Bercovitch L. Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum. J Am Acad Dermatol. 2003 Apr;48(4):620-2. Patient Summary. PMID: 12664032

Bercovitch L, Schepps B, Koelliker S, Magro C, Terry SF, Lebwohl M. Mammographic findings in pseudoxanthoma elasticum. J Am Acad Dermatol. 2003 Mar;48(3):359-66. Patient Summary. PMID: 12637915

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Last modified: 06/29/2013