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

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, hi...

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Published in:Oral surgery, oral medicine, oral pathology and oral radiology oral medicine, oral pathology and oral radiology, 2016, Vol.121 (1), p.e6-e9
Main Authors: Decani, Sem, DDS, Varoni, Elena Maria, PhD, DDS, Baruzzi, Elisa, DDS, Moneghini, Laura, MD, Lodi, Giovanni, PhD, DDS, Sardella, Andrea, MD
Format: Article
Language:English
Subjects:
Biopsy
Dentistry
Diagnosis, Differential
Female
Humans
Middle Aged
Palate
Pseudoxanthoma Elasticum - diagnosis
Surgery
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Summary: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.
ISSN:2212-4403
2212-4411
DOI:10.1016/j.oooo.2015.09.010