The prevalence of pseudoxanthoma elasticum–like connective tissue changes in an oral biopsy service and review of the literature

Harrington, Christine; Beck, F. Michael; Allen, Carl M.; Kalmar, John R.

doi:10.1016/j.oooo.2014.12.003

Cited by 4 publications

(14 citation statements)

References 56 publications

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“…Although there is growing acceptance for molecular analysis in the diagnosis of this genetic disorder, its utility is still debated. 7 Histopathologic examinations using von Kossa and Orcein staining is still the preferred diagnostic procedure, since it allows for the observation of PXErelated alterations, including granular, fragmented, and calcified elastic fibers in both skin and oral mucosal lesions. Specifically, von Kossa staining is used to visualize calcium deposits, and Orcein detects altered morphology in elastic fibers.…”

Section: Discussionmentioning

confidence: 99%

Pseudoxanthoma elasticum of the palate: a case report and a brief review of the literature

Decani

Varoni

Baruzzi

et al. 2016

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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Pseudoxanthoma elasticum (PXE), which is a genetic, multi-target disorder characterized by progressive calcification and fragmentation of elastic fibers, affects several organs, including the eyes, skin, and cardiovascular system. Diagnosis of PXE is currently based on cutaneous and ocular signs, histopathologic findings, and a patient's family history. PXE-related oral mucosal lesions are rarely reported, possibly due to the potential for misdiagnosis as Fordyce spots; however, when such lesions are reported, they are primarily localized to the vestibular mucosa of the lower lip. Here, we report the case of a female with an intraoral presentation of PXE at the labial and palatal sites. PXE was previously suspected in this patient because of the presence of cardiovascular, ocular, and cutaneous signs; however, a cutaneous biopsy showed findings not consistent with PXE. Incisional biopsy of the palatal lesion confirmed the PXE diagnosis, leading to proper management of the disorder to prevent ophthalmologic and cardiovascular complications.

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Section: Discussionmentioning

confidence: 99%

Pseudoxanthoma elasticum of the palate: a case report and a brief review of the literature

Decani

Varoni

Baruzzi

et al. 2016

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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“…Interestingly, the prevalence of PXE‐like changes in oral biopsies undertaken for other indications was found to be 9.8%, much higher than the prevalence of PXE (0.001%–0.004%) and the ABCC6 gene mutation (0.625%–1.25%). This led the authors of that study to hypothesize that PXE‐like changes can arise as an acquired, age‐related connective tissue change 5 . One study found that oral lesions correlate with worse cardiovascular disease burden 9 .…”

Section: Discussionmentioning

confidence: 99%

“…Such changes are highlighted by Verhoeff‐van Gieson and von Kossa staining, respectively. Despite the striking histopathologic appearance, the diagnosis of PXE is often challenging as it exhibits a wide range of phenotypic variability 5 . Furthermore, clinical cutaneous lesions of PXE may lack histopathologic findings and vice versa 5 …”

Section: Introductionmentioning

confidence: 99%

Pseudoxanthoma‐elasticum‐like changes on the soft palate

et al. 2023

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Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by aberrant fragmentation and calcification of elastic fibers, leading to characteristic cutaneous, ophthalmic, and cardiovascular manifestations. PXE demonstrates significant phenotypic variability; involvement of the oral mucosa may be the only clue to the diagnosis. Reports on mucous membrane involvement in PXE are scarce.Here, we present a case of PXE-like changes in the oral cavity. A 70-year-old male patient presented with a painless leukoplakic lesion on the soft palate. Biopsy revealed numerous degenerated fibers in the lamina propria. Verhoeff-van Gieson and von Kossa staining confirmed their identity as calcified elastic fibers. A histopathological diagnosis of PXE-like changes was made; the patient was referred to ophthalmology where angioid streaks were visualized fundoscopically. PXE-like changes in the absence of the characteristic genetic mutation have also been reported with or without systemic manifestations. Furthermore, PXE-like changes have been reported in up to 10% of oral biopsy specimens undertaken without clinical suspicion for PXE.Therefore, the significance of such changes in isolation is unclear. Clinicians and pathologists should be aware of the potential oral manifestations of PXE to facilitate prompt diagnosis and subspecialist referral.

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“…Alterations in the ABCC6 gene have been associated with the disease (see, e.g., [3] ). The organs that are primarily affected by PXE are the skin and the eyes [17] . Cutaneous lesions in PXE are asymptomatic yellow-white papules.…”

Section: Introductionmentioning

confidence: 99%

“…1 . These papules are mainly found in the flexor areas: neck, axillae, and inguinal folds [17] . Moreover, the cardiovascular system may also be affected in PXE patients.…”

Section: Introductionmentioning

confidence: 99%

Bidimensional unconstrained optimization approach to EMD: An algorithm revealing skin perfusion alterations in pseudoxanthoma elasticum patients

Humeau-Heurtier

Colominas

Schlotthauer

et al. 2017

Computer Methods and Programs in Biomedicine

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The prevalence of pseudoxanthoma elasticum–like connective tissue changes in an oral biopsy service and review of the literature

Cited by 4 publications

References 56 publications

Pseudoxanthoma elasticum of the palate: a case report and a brief review of the literature

Pseudoxanthoma elasticum of the palate: a case report and a brief review of the literature

Pseudoxanthoma‐elasticum‐like changes on the soft palate

Bidimensional unconstrained optimization approach to EMD: An algorithm revealing skin perfusion alterations in pseudoxanthoma elasticum patients

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