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Pseudoxanthoma elasticum, forme fruste

MedGen UID:
357280
Concept ID:
C1867450
Disease or Syndrome
Synonyms: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS; Pseudoxanthoma Elasticum, Incomplete
 
Gene (location): ABCC6 (16p13.11)
 
Monarch Initiative: MONDO:0008333
OMIM®: 177850

Disease characteristics

Excerpted from the GeneReview: Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span. [from GeneReviews]
Authors:
Sharon F Terry  |  Jouni Uitto   view full author information

Clinical features

From HPO
Angina pectoris
MedGen UID:
1929
Concept ID:
C0002962
Sign or Symptom
Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
Arteriosclerosis disorder
MedGen UID:
2076
Concept ID:
C0003850
Disease or Syndrome
Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Cerebral hemorrhage
MedGen UID:
423648
Concept ID:
C2937358
Pathologic Function
Hemorrhage into the parenchyma of the brain.
Medial calcification of medium-sized arteries
MedGen UID:
868501
Concept ID:
C4022895
Pathologic Function
Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.
Medial calcification of large arteries
MedGen UID:
870808
Concept ID:
C4025265
Pathologic Function
Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.
Premature occlusive vascular stenosis
MedGen UID:
1626844
Concept ID:
C4531299
Disease or Syndrome
Peripheral arterial stenosis with onset before the age of 50 years.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Abnormal sternum morphology
MedGen UID:
349830
Concept ID:
C1860493
Anatomical Abnormality
An anomaly of the sternum, also known as the breastbone.
Peau d'orange
MedGen UID:
98085
Concept ID:
C0425791
Sign or Symptom
Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
High, narrow palate
MedGen UID:
324787
Concept ID:
C1837404
Finding
The presence of a high and narrow palate.
Yellow papule
MedGen UID:
1373750
Concept ID:
C2033396
Finding
A papule with yellow color.
Angioid streaks of the fundus
MedGen UID:
1541
Concept ID:
C0002982
Disease or Syndrome
Angioid streaks are irregular tapering linear breaks in the Bruch membrane that typically emanate from the optic disk (summary by Karacorlu et al., 2002).
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Retinal hemorrhage
MedGen UID:
11210
Concept ID:
C0035317
Pathologic Function
Hemorrhage occurring within the retina.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

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

Suggested Reading

PubMed

Uitto J, Bercovitch L, Terry SF, Terry PF
Am J Med Genet A 2011 Jul;155A(7):1517-26. Epub 2011 Jun 10 doi: 10.1002/ajmg.a.34067. PMID: 21671388Free PMC Article

Recent clinical studies

Etiology

Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
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
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

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
Roach ES, Islam MP
Handb Clin Neurol 2015;132:215-21. doi: 10.1016/B978-0-444-62702-5.00015-9. PMID: 26564082
Laube S, Moss C
Arch Dis Child 2005 Jul;90(7):754-6. doi: 10.1136/adc.2004.062075. PMID: 15970621Free PMC Article
Ohtani T, Furukawa F
J Dermatol 2002 Oct;29(10):615-20. doi: 10.1111/j.1346-8138.2002.tb00190.x. PMID: 12432991

Therapy

Verschuere S, Van Gils M, Nollet L, Vanakker OM
FEBS Lett 2020 Dec;594(23):4109-4133. Epub 2020 Nov 21 doi: 10.1002/1873-3468.13981. PMID: 33131056
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
Neldner KH
Int J Dermatol 1988 Mar;27(2):98-100. doi: 10.1111/j.1365-4362.1988.tb01280.x. PMID: 3360560

Prognosis

Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
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
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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