Skip to Main Content
 

Global Search Box

 
 
 
 

Files

File List


osu1308062343.pdf (570.05 KB)

ETD Abstract Container

Abstract Header

The Prevalence of Pseudoxanthoma Elasticum-like Connective Tissue Changes in an Oral Biopsy Service

Harrington, Christine
http://rave.ohiolink.edu/etdc/view?acc_num=osu1308062343

Abstract Details

2011, Master of Science, Ohio State University, Dentistry.
Pseudoxanthoma elasticum (PXE) is a connective tissue disorder affecting elastic fibers of the skin, eyes and heart primarily. This autosomal recessive disorder is caused by mutation of the ABCC6 gene. Initial investigations suggested a prevalence of 1 in a million; however, further research has suggested that PXE may occur more frequently. PXE has been found worldwide. Both Chassaing and Ringpfeil (2005) reported rates between 1:25,000 to 1:100,000 (0.004%-0.001%). Li (2008) suggested that 1:50,000 to 1:70,000 (0.002%-0.0014%) was representative. The true prevalence is uncertain for at least two reasons. First, the condition has a wide range of expression with some affected individuals having obvious signs of the disorder, while others show no outward changes. Secondly, many physicians are not familiar with signs and symptoms of PXE, therefore patients may not be diagnosed with this disorder. Further complicating the situation, it is known that individuals who are heterozygous for the trait can show signs of PXE, including the connective tissue changes seen by histopathologic examination. Very little has been documented about the carrier rate of PXE. Neldner (1988) reported it to be 1:160 (0.625%) in the general population. Chassaing (2005), using the Hardy-Weinberg law, calculated the frequency as 1:80 (1.25%) assuming a prevalence of PXE as 1:25,000; but postulated that it could be as high as 3%. Histopathologically the classic connective tissue change of PXE is the presence of fragmented calcified elastic fibers confirmed by using the Verhoeff-van Gieson and von Kossa stains. Connective tissue changes of PXE have been documented in oral biopsy specimens. In addition, PXE-like connective tissue changes have been identified as an incidental finding in specimens evaluated by Oral Pathology Consultants at The Ohio State University College of Dentistry. Investigating the frequency of these changes could make a contribution to answering the question of actual prevalence of heterozygotes of PXE, or of PXE itself. These histopathologic changes alone are not diagnostic for PXE. Conditions exist that have similar histopathologic features to those of pseudoxanthoma elasticum, such as PXE-like fibers within scars, and some inflammatory skin diseases. For example, according to Nielsen (1978), calcific elastosis without perforations, calciphylaxis after chronic renal failure, saltpeter and penicillamine intoxications are histopathologically indistinguishable. To confirm PXE or heterozygosity of PXE, further studies would have to be undertaken including medical and genetic evaluation. There is no cure for PXE. As it progresses, skin changes can cause cosmetic and psychological problems, eye changes can cause central vision loss and cardiac changes can lead to coronary artery disease. Early diagnosis has a significant impact on management of this disorder by aiming to avoid or reduce the morbidity of its effects. The purpose of this pilot study was to determine the frequency of PXE-like changes in oral mucosal biopsy specimens.
John Kalmar, D.M.D.,PhD (Advisor)
F. Michael Beck, D.D.S. (Committee Member)
Carl Allen, D.D.S., MS (Committee Member)
50 p.
Dentistry; Histology
pseudoxanthoma elasticum, Gr&246; nblad-Strandberg syndrome, PXE, gene pseudoxanthoma elasticum

Recommended Citations

Citations

  • Harrington, C. (2011). The Prevalence of Pseudoxanthoma Elasticum-like Connective Tissue Changes in an Oral Biopsy Service [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1308062343

    APA Style (7th edition)

  • Harrington, Christine. The Prevalence of Pseudoxanthoma Elasticum-like Connective Tissue Changes in an Oral Biopsy Service. 2011. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1308062343.

    MLA Style (8th edition)

  • Harrington, Christine. "The Prevalence of Pseudoxanthoma Elasticum-like Connective Tissue Changes in an Oral Biopsy Service." Master's thesis, Ohio State University, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=osu1308062343

    Chicago Manual of Style (17th edition)

osu1308062343
957
© 2011, all rights reserved.
This open access ETD is published by The Ohio State University and OhioLINK.