Abstract

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 with significant morbidity. Though clinicians may easily recognize PXE with classic skin findings, PXE demonstrates significant phenotypic variability. In rare cases, involvement of the oral mucosa may be the only clue to the diagnosis, though reports on mucous membrane involvement in PXE are relatively 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 of the lesion revealed numerous loose aggregates of irregular, degenerated, basophilic fibers in the lamina propria. Verhoeff-van Gieson staining confirmed their identity as elastic fibers; calcium deposition thereon was confirmed with Von Kossa staining. Given these characteristic findings, a histopathological diagnosis of PXE-like changes was made, and the patient was referred to ophthalmology and cardiology for further workup. The reported prevalence of oral involvement in PXE is widely variable, ranging from 5% to 83%. PXE-like changes in the absence of the characteristic genetic mutation have also been reported with (“acquired” or “pseudo PXE”) or without (“localized acquired PXE”) systemic manifestations. These may arise as a consequence of medical disease (e.g., beta-thalassemia), medication administration (e.g., penicillamine), or in isolation with no identifiable cause. Furthermore, PXE-like changes have been reported to arise in as many as 10% of oral biopsy specimens undertaken without clinical suspicion for PXE. Therefore, the significance of such changes in isolation is unclear. Clinicians and pathologists alike should be aware of the potential oral manifestations of PXE in order to facilitate prompt diagnosis and appropriate subspecialist referral.

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