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• W2033243889 abstract "Pseudoxanthoma elasticum (PXE) is a rare systemic genetic disease with an estimated frequency of between 1 of 70,000 and 1 of 160,000 persons. 1 Lebwohl M Neldner K Pope F.M De Paepe A Christiano A.M Boyd C.D Uitto J Classification of pseudoxanthoma elasticum report of a consensus conference. J Am Acad Dermatol. 1994; 30: 103-107 Abstract Full Text PDF PubMed Scopus (170) Google Scholar It mainly affects the skin (typical papules on the neck and folds), eyes (angioid streaks and hemorrhagic maculopathy), gastrointestinal tract (bleeding), kidney (calcification), and cardiovascular system. 1 Lebwohl M Neldner K Pope F.M De Paepe A Christiano A.M Boyd C.D Uitto J Classification of pseudoxanthoma elasticum report of a consensus conference. J Am Acad Dermatol. 1994; 30: 103-107 Abstract Full Text PDF PubMed Scopus (170) Google Scholar , 2 Shultz P.N Sobol W.N Angioid streaks and pseudoxanthoma elasticum. JAMA. 1991; 265: 45 Crossref PubMed Scopus (7) Google Scholar , 3 Korn S Seilnacht J Hunt C Feller A.M Cardiovascular manifestations of pseudoxanthoma elasticum. Thorac Cardiovasc Surg. 1987; 35: 191-194 Crossref PubMed Scopus (15) Google Scholar The pathogenetic basis for these different manifestations is a morphofunctional disorder of the connective tissue. 4 Christiano A.M Lebwohl M Boyd C.D Uitto J Workshop on pseudoxanthoma elasticum. Molecular biology, and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, PA.M. J Invest Dermatol. 1992; 88: 660-663 Crossref Scopus (57) Google Scholar The disease is genetically heterogenous; most cases are sporadic but autosomal recessive (more common) and autosomal dominant inheritance have been reported. 5 Struk B Neldner K Rao V St. Jean P Lindpaintner K Mapping of both autosomal recessive and autosomal dominant variants of pseudoxanthoma elasticum to chromosome 16p 13.1. Hum Mol Genet. 1997; 6: 1823-1828 Crossref PubMed Scopus (110) Google Scholar In these cases, eye and skin involvement seems to be inherited in an autosomal recessive manner, whereas cardiovascular involvement is autosomal dominant. 6 Uitto J Boyd C.D Lebwohl G Moshell A.N Rosenbloom J Terry S International Centennial Meeting on pseudoxanthoma elasticum progress in PXE research. J Invest Dermatol. 1998; 110: 840-842 Crossref PubMed Scopus (45) Google Scholar The most frequent cardiovascular manifestations are coronary artery disease, peripheral vascular disease, hypertension, calcification of the peripheral arteries, restrictive cardiomyopathy, mitral stenosis, and mitral valve prolapse (MVP). 3 Korn S Seilnacht J Hunt C Feller A.M Cardiovascular manifestations of pseudoxanthoma elasticum. Thorac Cardiovasc Surg. 1987; 35: 191-194 Crossref PubMed Scopus (15) Google Scholar , 7 Mendelson G Bulkley B.H Hutchins G.M Cardiovascular manifestations of pseudoxanthoma elasticum. Arch Pathol Lab Med. 1978; 102: 298-302 PubMed Google Scholar , 8 Kévorkian J.P Masquet C Kural-Menasche S Le Dref O Beaufils P New report of severe coronary artery disease in an eighteen-year-old girl with pseudoxanthoma elasticum. Case report and review of the literature. Angiology. 1997; 48: 735-741 Crossref PubMed Scopus (30) Google Scholar , 9 Fukuda K Uno K Fuji T Mukai M Handa S Mitral stenosis in pseudoxanthoma elasticum. Chest. 1992; 101: 1706-1707 Crossref PubMed Scopus (19) Google Scholar , 10 Slade A.K.B John R.M Swanton R.H Pseudoxanthoma elasticum presenting with myocardial infarction. Br Heart J. 1990; 63: 372-373 Crossref PubMed Scopus (21) Google Scholar For some of these manifestations, such as calcification of the peripheral arteries, the relation to PXE is indicated by similar histopathologic findings, 11 Wilhelm K Paver K Sudden death in pseudoxanthoma elasticum. Med J Aust. 1972; 2: 1363-1365 PubMed Google Scholar , 12 Perrot L.J Mark R.E Cardiac involvement in a child with unexpected pseudoxanthoma elasticum. Pediatr Pathol. 1993; 13: 273-279 Crossref PubMed Scopus (7) Google Scholar whereas for others, such as MVP, a pathogenetic relation has not yet been clearly demonstrated. A family of 8 subjects belonging to 2 generations with 3 members affected by PXE (with typical skin and eye lesions) offered us the opportunity to obtain further data about cardiac involvement in familial PXE." @default.
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• W2033243889 title "Mitral valve prolapse in healthy relatives of patients with familial pseudoxanthoma elasticum" @default.
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