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

Abstract

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.

Pseudoxanthoma Elasticum: Report of Two Cases

“…The diagnosis is clinical, associated with histopathological examination, which is characteristic and reveals fragmented and distorted elastic fibers in the reticular and deep dermis. These changes are more evident in the Verhoeff, Van Giesson and Calleja stains, specific for the elastic tissue [2,3]. The clinic manifestation of skin lesions, ocular lesions, and histopathological findings in skin lesions in both of our cases were compatible with PXE.…”

“…Asymptomatic skin manifestations, which are often the first clinical signs of PXE, usually occur between the first and second decades of the patient's life [3]. The skin lesions typically consist of small, asymptomatic, yellowish, or skin-colored papules, which progressively coalesce into larger plaques and plaques due to cutaneous laxity [2,3].…”

“…Mucosal lesions of the oral cavity and genital area can also be detected and resemble cutaneous changes. Although the cutaneous lesions principally represent a cosmetic problem, they predict the risk for development of ocular and cardiovascular manifestations, with a considerable morbidity and occasional mortality [2,3]. Because the lesions are thin and asymptomatic, the diagnosis is delayed [2].…”

“…Ophthalmological features of PXE include primarily peau d'orange, comet lesions, angioid streaks, choroidal neovascularization (CNV), hemorrhages. Other ocular signs of PXE include chorioretinal atrophies, optic disk drusen and disciform scar [2,3]. Peau d'orange is the earliest funduscopically visible alteration in patients with PXE, preceding the development of angioid streaks.…”

“…In the cardiovascular system, the calcification of artery walls of small and medium caliber is observed [1,2]. The patients of PXE can also develop premature atherosclerosis with early acute myocardial infarcts [2,3]. Alterations in lipoprotein composition and bleeding diathesis were found in plasma samples of PXE patients [2].…”