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Pseudoxanthoma elasticum(PXE)

MedGen UID:
18733
Concept ID:
C0033847
Disease or Syndrome
Synonym: Pseudoxanthoma elasticum (inherited or acquired)
SNOMED CT: Pseudoxanthoma elasticum (252246005); PXE - Pseudoxanthoma elasticum (252246005)
 
Related genes: XYLT2, XYLT1, ABCC6
 
Monarch Initiative: MONDO:0024308
OMIM®: 264800; 603234

Definition

Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body.

In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with PXE may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss.

Mineralization of the blood vessels that carry blood from the heart to the rest of the body (arteries) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that is characterized by cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W
Atherosclerosis 2021 May;324:18-26. Epub 2021 Mar 13 doi: 10.1016/j.atherosclerosis.2021.03.012. PMID: 33812167
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220
Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I
Clin Exp Optom 2011 Mar;94(2):169-80. Epub 2010 Dec 29 doi: 10.1111/j.1444-0938.2010.00559.x. PMID: 21198842

Recent clinical studies

Etiology

Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q
Genet Med 2022 Jan;24(1):75-86. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.011. PMID: 34906475Free PMC Article
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W
Atherosclerosis 2021 May;324:18-26. Epub 2021 Mar 13 doi: 10.1016/j.atherosclerosis.2021.03.012. PMID: 33812167
Brampton C, Pomozi V, Chen LH, Apana A, McCurdy S, Zoll J, Boisvert WA, Lambert G, Henrion D, Blanchard S, Kuo S, Leftheriotis G, Martin L, Le Saux O
Sci Rep 2021 Feb 16;11(1):3881. doi: 10.1038/s41598-021-82966-y. PMID: 33594095Free PMC Article
Wightman AJ, Guymer RH
Clin Exp Optom 2019 Sep;102(5):455-462. Epub 2018 Oct 8 doi: 10.1111/cxo.12842. PMID: 30298528
Germain DP
Orphanet J Rare Dis 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8. PMID: 28486967Free PMC Article

Diagnosis

Witkowski C, Dhillon N, Dhillon B
J R Coll Physicians Edinb 2022 Jun;52(2):128-131. Epub 2022 Jun 17 doi: 10.1177/14782715221103686. PMID: 36146987
Brokamp G, Mori M, Faith EF
JAMA Dermatol 2022 Jan 1;158(1):100. doi: 10.1001/jamadermatol.2021.4059. PMID: 34787669
Verschuere S, Navassiolava N, Martin L, Nevalainen PI, Coucke PJ, Vanakker OM
Genet Med 2021 Jan;23(1):131-139. Epub 2020 Sep 2 doi: 10.1038/s41436-020-00945-6. PMID: 32873932
Andrés-Ramos I, Alegría-Landa V, Gimeno I, Pérez-Plaza A, Rütten A, Kutzner H, Requena L
Am J Dermatopathol 2019 Feb;41(2):85-117. doi: 10.1097/DAD.0000000000001275. PMID: 30688725
Roach ES, Islam MP
Handb Clin Neurol 2015;132:215-21. doi: 10.1016/B978-0-444-62702-5.00015-9. PMID: 26564082

Therapy

Noureldine MHA, Taher AT, Haydar AA, Berjawi A, Khamashta MA, Uthman I
Rheumatology (Oxford) 2018 Jan 1;57(1):19-27. doi: 10.1093/rheumatology/kex058. PMID: 28371817
Bhoiwala DL, Dunaief JL
Surv Ophthalmol 2016 Jan-Feb;61(1):33-50. Epub 2015 Aug 29 doi: 10.1016/j.survophthal.2015.08.005. PMID: 26325202Free PMC Article
Roach ES, Islam MP
Handb Clin Neurol 2015;132:215-21. doi: 10.1016/B978-0-444-62702-5.00015-9. PMID: 26564082
Combemale P, Consort T, Denis-Thelis L, Estival JL, Dupin M, Kanitakis J
Br J Dermatol 2005 Jan;152(1):166-9. doi: 10.1111/j.1365-2133.2005.06340.x. PMID: 15656820
Neldner KH
Int J Dermatol 1988 Mar;27(2):98-100. doi: 10.1111/j.1365-4362.1988.tb01280.x. PMID: 3360560

Prognosis

Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q
Genet Med 2022 Jan;24(1):75-86. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.011. PMID: 34906475Free PMC Article
Lucas C, Aranha J, da Rocha I, Sousa D
F1000Res 2020;9:9. Epub 2020 Jan 9 doi: 10.12688/f1000research.21431.1. PMID: 32742638Free PMC Article
Combrinck M, Gilbert JD, Byard RW
J Forensic Sci 2011 Mar;56(2):418-22. Epub 2011 Jan 6 doi: 10.1111/j.1556-4029.2010.01647.x. PMID: 21210805
Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I
Clin Exp Optom 2011 Mar;94(2):169-80. Epub 2010 Dec 29 doi: 10.1111/j.1444-0938.2010.00559.x. PMID: 21198842
Laube S, Moss C
Arch Dis Child 2005 Jul;90(7):754-6. doi: 10.1136/adc.2004.062075. PMID: 15970621Free PMC Article

Clinical prediction guides

Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q
Genet Med 2022 Jan;24(1):75-86. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.011. PMID: 34906475Free PMC Article
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W
Atherosclerosis 2021 May;324:18-26. Epub 2021 Mar 13 doi: 10.1016/j.atherosclerosis.2021.03.012. PMID: 33812167
Gambichler T
Arch Dermatol Res 2010 Mar;302(2):85-93. doi: 10.1007/s00403-009-1004-0. PMID: 19936772
Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG
Pflugers Arch 2007 Feb;453(5):685-91. Epub 2006 Apr 8 doi: 10.1007/s00424-005-0039-0. PMID: 16604369
Laube S, Moss C
Arch Dis Child 2005 Jul;90(7):754-6. doi: 10.1136/adc.2004.062075. PMID: 15970621Free PMC Article

Recent systematic reviews

Murshidi R, Alnaimat F, Al-Halaseh S, Hanandeh S, Hamad SB, Abdaljaleel M, Al Ryalat N
Rheumatol Int 2024 Feb;44(2):379-396. Epub 2023 Dec 23 doi: 10.1007/s00296-023-05509-w. PMID: 38141121
Kauw F, Kranenburg G, Kappelle LJ, Hendrikse J, Koek HL, Visseren FLJ, Mali WPT, de Jong PA, Spiering W
J Neurol Sci 2017 Feb 15;373:167-172. Epub 2016 Dec 28 doi: 10.1016/j.jns.2016.12.053. PMID: 28131180
De Vilder EY, Debacker J, Vanakker OM
Int J Mol Sci 2017 Jan 25;18(2) doi: 10.3390/ijms18020240. PMID: 28125048Free PMC Article
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I
BMC Ophthalmol 2016 Jul 8;16:102. doi: 10.1186/s12886-016-0285-2. PMID: 27390837Free PMC Article

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