U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

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:
 
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

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
Pope FM
Br J Dermatol 1975 May;92(5):493-509. doi: 10.1111/j.1365-2133.1975.tb03117.x. PMID: 1100089

Diagnosis

Ghaoui N, Abou-Rahal J, Nasser N, Kurban M, Abbas O
Skinmed 2024;22(3):172-177. Epub 2024 Aug 2 PMID: 39090009
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
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
Fabbri E, Forni GL, Guerrini G, Borgna-Pignatti C
Dermatol Online J 2009 Jul 15;15(7):7. PMID: 19903435
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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
External link. Please review our privacy policy.