Pseudoxanthoma elasticum overview: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===History and Symptoms== | ===History and Symptoms=== | ||
The clinical manifestation of pseudoxanthoma elasticum usually starts with the skin. Patients may present with features of gastrointestinal bleeding such as [[melena]], [[hematemesis]], frank bleeding or [[hematuria]]; cardiovascular manifestation such as [[angina]],[[intermittent claudication]], [[coronary heart disease]] or ocular symptoms such as loss of central vision. | The clinical manifestation of pseudoxanthoma elasticum usually starts with the skin. Patients may present with features of gastrointestinal bleeding such as [[melena]], [[hematemesis]], frank bleeding or [[hematuria]]; cardiovascular manifestation such as [[angina]],[[intermittent claudication]], [[coronary heart disease]] or ocular symptoms such as loss of central vision. | ||
===Physical Examination== | ===Physical Examination=== | ||
==References== | ==References== | ||
Revision as of 22:40, 19 August 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Pseudoxanthoma elasticum (PXE) is an inherited disorder of the connective tissue primarily affecting the skin, retina and the cardiovascular system.[1] It is caused by a mutation of the ABCC6 gene on the short arm of chromosome 16 (16p13.1) that encodes an ATP-binding cassette transporter. PXE causes fragmentation and mineralization of elastic fibers in some tissues.
Historical Perspective
Pseudoxanthoma elasticum was first described by Dr. Ferdinand-Jean Darrier in 1896. It was also called "Grönblad-Strandberg syndrome" in older literature.
Classification
PXE can be classified into Autosomal Dominant and Autosomal Recessive forms. However, some cases are sporadic with no family history of the disease has also been reported.
Pathophysiology
Pseudoxanthoma elasticum involves the accumulation of calcium and fragmentation of elastin-containing fibers in the connective tissue, and in the mid-sized arteries. There is mutation of the ABCC6 gene which encodes for a transmembrane efflux transporter. Premature atherosclerosis is also associated with mutations in the ABCC6 gene. Recently, novel mutations have been found including p.R1141X and g.del23-29, and they account for about 40% of all mutations.
Causes
80% of clinical cases of pseudoxanthoma elasticum have detectable mutations in the ABCC6 gene.[2][3][4][5]
Epidemiology and Demographics
The prevalence of PXE is approximately 1:50,000, with females twice as many as the males. The average age of onset is 13 years.
Natural History, Complications and Prognosis
The ocular involvement including retinal hemorrhages can progressively lead to loss of central vision, sparing the peripheral vision. The involvement of the elastic media and intima of the arteries can lead to claudication, hypertension, angina pectoris, myocardial infarction, and gastrointestinal or cerebral hemorrhage which could be fatal, although relatively uncommon. The prognosis of PXE largely depends on the extracutaneous organ manifestations. The occurence of myocardial infarction, cerebral or GI hemorrhage may have fatal consequences. Spontaneous resolution of skin changes has been reported, but is exceedingly rare.[1]
Diagnosis
History and Symptoms
The clinical manifestation of pseudoxanthoma elasticum usually starts with the skin. Patients may present with features of gastrointestinal bleeding such as melena, hematemesis, frank bleeding or hematuria; cardiovascular manifestation such as angina,intermittent claudication, coronary heart disease or ocular symptoms such as loss of central vision.
Physical Examination
References
- ↑ 1.0 1.1 Chassaing, N.; Martin, L.; Calvas, P.; Le Bert, M.; Hovnanian, A. (2005). "Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations". J Med Genet. 42 (12): 881–92. doi:10.1136/jmg.2004.030171. PMID 15894595. Unknown parameter
|month=ignored (help) - ↑ Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J (2000). "Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter". Proc. Natl. Acad. Sci. U.S.A. 97 (11): 6001–6. doi:10.1073/pnas.100041297. PMID 10811882.
- ↑ Bergen AA, Plomp AS, Schuurman EJ; et al. (2000). "Mutations in ABCC6 cause pseudoxanthoma elasticum". Nat. Genet. 25 (2): 228–31. doi:10.1038/76109. PMID 10835643.
- ↑ Le Saux O, Urban Z, Tschuch C; et al. (2000). "Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum". Nat. Genet. 25 (2): 223–7. doi:10.1038/76102. PMID 10835642.
- ↑ Struk B, Cai L, Zäch S; et al. (2000). "Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum". J. Mol. Med. 78 (5): 282–6. PMID 10954200.