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Autosomal recessive inherited pseudoxanthoma elasticum(PXE)

MedGen UID:
698415
Concept ID:
C1275116
Disease or Syndrome
Synonyms: Gronblad Strandberg syndrome; PXE
SNOMED CT: Autosomal recessive pseudoxanthoma elasticum (403812000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): ABCC6 (16p13.11); XYLT1 (16p12.3); XYLT2 (17q21.33)
 
Monarch Initiative: MONDO:0009925
OMIM®: 264800
Orphanet: ORPHA758

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

Additional description

From OMIM
Pseudoxanthoma elasticum is an inherited multisystem disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Bruch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye, including peau d'orange, angioid streaks, and choroidal neovascularizations (CNVs); of the skin, including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces; and of the cardiovascular system, with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings (summary by Finger et al., 2009). Generalized arterial calcification of infancy-2 (GACI2; 614473) is an allelic disorder, also caused by homozygous or compound heterozygous mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders (Nitschke et al., 2012).  http://www.omim.org/entry/264800

Clinical features

From HPO
Renovascular hypertension
MedGen UID:
43786
Concept ID:
C0020545
Disease or Syndrome
The presence of hypertension related to stenosis of the renal artery.
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.
Restrictive cardiomyopathy
MedGen UID:
40111
Concept ID:
C0007196
Disease or Syndrome
Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.
Coronary artery atherosclerosis
MedGen UID:
3623
Concept ID:
C0010054
Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Intermittent claudication
MedGen UID:
7115
Concept ID:
C0021775
Disease or Syndrome
Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.
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.
Mitral stenosis
MedGen UID:
44466
Concept ID:
C0026269
Disease or Syndrome
An abnormal narrowing of the orifice of the mitral valve.
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Weak pulse
MedGen UID:
68554
Concept ID:
C0232132
Finding
A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.
Accelerated atherosclerosis
MedGen UID:
376623
Concept ID:
C1849618
Finding
Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Decreased DLCO
MedGen UID:
892993
Concept ID:
C4073175
Finding
Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.
White oral mucosal macule
MedGen UID:
1716730
Concept ID:
C5398009
Finding
A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.
Cutis laxa
MedGen UID:
8206
Concept ID:
C0010495
Disease or Syndrome
Wrinkled, redundant, inelastic and sagging skin.
Civatte bodies
MedGen UID:
90706
Concept ID:
C0333440
Anatomical Abnormality
Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant
Yellow papule
MedGen UID:
1373750
Concept ID:
C2033396
Finding
A papule with yellow color.
Angioid streaks
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.
Optic disc drusen
MedGen UID:
14495
Concept ID:
C0029128
Disease or Syndrome
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
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.
Choroidal neovascularization
MedGen UID:
154726
Concept ID:
C0600518
Pathologic Function
Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
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.
Retinal peau d'orange
MedGen UID:
1713761
Concept ID:
C5398025
Finding
A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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
Bruno G, Ritelli M, Di Pietro A, Cipriano L, Colombi M, Lus G, Puoti G
J Stroke Cerebrovasc Dis 2021 Jun;30(6):105744. Epub 2021 Apr 1 doi: 10.1016/j.jstrokecerebrovasdis.2021.105744. PMID: 33813081
Martin L, Hoppé E, Kauffenstein G, Omarjee L, Navasiolava N, Henni S, Willoteaux S, Leftheriotis G
Bone 2017 Oct;103:88-92. Epub 2017 Jun 27 doi: 10.1016/j.bone.2017.06.017. PMID: 28658601
Germain DP
Orphanet J Rare Dis 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8. PMID: 28486967Free PMC Article
Pingel S, Pausewang KS, Passon SG, Blatzheim AK, Gliem M, Charbel Issa P, Hendig D, Horlbeck F, Tuleta I, Nickenig G, Schahab N, Skowasch D, Schaefer CA
Vasa 2017 Jan;46(1):47-52. Epub 2016 Dec 8 doi: 10.1024/0301-1526/a000583. PMID: 27927085

Diagnosis

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
Bruno G, Ritelli M, Di Pietro A, Cipriano L, Colombi M, Lus G, Puoti G
J Stroke Cerebrovasc Dis 2021 Jun;30(6):105744. Epub 2021 Apr 1 doi: 10.1016/j.jstrokecerebrovasdis.2021.105744. PMID: 33813081
Roach ES, Islam MP
Handb Clin Neurol 2015;132:215-21. doi: 10.1016/B978-0-444-62702-5.00015-9. PMID: 26564082
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
Finger RP, Charbel Issa P, Ladewig MS, Götting C, Szliska C, Scholl HP, Holz FG
Surv Ophthalmol 2009 Mar-Apr;54(2):272-85. doi: 10.1016/j.survophthal.2008.12.006. PMID: 19298904

Therapy

Roach ES, Islam MP
Handb Clin Neurol 2015;132:215-21. doi: 10.1016/B978-0-444-62702-5.00015-9. PMID: 26564082
LaRusso J, Li Q, Uitto J
J Dtsch Dermatol Ges 2011 Aug;9(8):586-93. Epub 2011 Mar 16 doi: 10.1111/j.1610-0387.2011.07658.x. PMID: 21435181Free PMC Article

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
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
Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K
Hum Mol Genet 1997 Oct;6(11):1823-8. doi: 10.1093/hmg/6.11.1823. PMID: 9302259

Clinical prediction guides

Martin L, Hoppé E, Kauffenstein G, Omarjee L, Navasiolava N, Henni S, Willoteaux S, Leftheriotis G
Bone 2017 Oct;103:88-92. Epub 2017 Jun 27 doi: 10.1016/j.bone.2017.06.017. PMID: 28658601
Vasseur M, Carsin-Nicol B, Ebran JM, Willoteaux S, Martin L, Lefthériotis G; Angers PXE Consultation Center group
Eur J Vasc Endovasc Surg 2011 Sep;42(3):292-4. Epub 2011 Jul 1 doi: 10.1016/j.ejvs.2011.05.007. PMID: 21723754
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
Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT
Nat Genet 2000 Jun;25(2):228-31. doi: 10.1038/76109. PMID: 10835643
Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K
Hum Mol Genet 1997 Oct;6(11):1823-8. doi: 10.1093/hmg/6.11.1823. PMID: 9302259

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