Abstract
Pseudoxanthoma elasticum (PXE) is an inherited multisystemic disease of elastic fibers that primarily affects the skin and retina. A case of primary PXE of the skin with late involvement of the upper lip is reported. A 55-year-old woman with a previous diagnosis of PXE affecting her skin developed a lesion on her lower lip. An oral examination identified a yellowish macule of undefined limits. A biopsy from her lip was taken and both light and transmission electron microscopies confirmed the presence of fragmented elastic fibers and calcifications on her mucosa, which was compatible with the diagnosis of oral PXE. Since the manifestation of oral PXE is rare in this region, dental practitioners must be aware that this systemic condition may produce oral lesions, which sometimes may mimic other benign diseases of the oral cavity like Fordyce granules. So, the establishment of an appropriate diagnosis is necessary to provide adequate information and attention to the patient.
Highlights
Pseudoxanthoma elasticum (PXE) is a multisystemic heritable disease characterized by fragmentation and calcification of elastic fibers [1]
It has been associated with ABCC6mutation gene, which is responsible for encoding an ATPdependent transmembrane transporter especially in liver and kidneys [2]
This study describes a case of PXE affecting a woman who developed lesions in the oral mucosa during the progression of the disease and presents detailed information about clinical, microscopic and ultrastructural aspects of the oral and skin lesions
Summary
Pseudoxanthoma elasticum (PXE) is a multisystemic heritable disease characterized by fragmentation and calcification of elastic fibers [1]. It has been associated with ABCC6mutation gene, which is responsible for encoding an ATPdependent transmembrane transporter especially in liver and kidneys [2]. To the best of our knowledge only six reported cases of oral PXE have been found in the English literature [7, 8, 10,11,12] In this sense, it is worth reporting this case, especially to help dental practitioners in recognition of oral PXE lesions and in establishing an early and correct diagnosis of this life-threatening condition. This study describes a case of PXE affecting a woman who developed lesions in the oral mucosa during the progression of the disease and presents detailed information about clinical, microscopic and ultrastructural aspects of the oral and skin lesions
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