Decani Sem, Varoni Elena Maria, Baruzzi Elisa, Moneghini Laura, Lodi Giovanni, Sardella Andrea
Azienda Ospedaliera San Paolo, U.O. Odontostomatologia II, Milan, Italy.
Azienda Ospedaliera San Paolo, U.O. Odontostomatologia II, Milan, Italy; Università degli Studi di Milano, Dipartimento di Scienze Biomediche, Chirurgiche e Odontoiatriche, Milan, Italy.
Oral Surg Oral Med Oral Pathol Oral Radiol. 2016 Jan;121(1):e6-9. doi: 10.1016/j.oooo.2015.09.010. Epub 2015 Sep 28.
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.
