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Dental impactions related to pseudoxanthoma elasticum
Rocio T Velázquez-Cayón1, Daniel Torres-Lagares, Rosa-María Yáñez-Vico
1Department of Oral Surgery, University of Seville, Seville, Spain.
Summary
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder. This case report details a 30-year-old woman diagnosed with PXE, presenting with multiple dental impactions, a previously undocumented oral manifestation.
Area of Science:
- Medical Genetics
- Dermatology
- Oral Surgery
Background:
- Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive genetic disorder characterized by the degeneration and calcification of elastic fibers.
- PXE primarily affects the skin, retina, and cardiovascular system, leading to characteristic clinical manifestations.
Observation:
- This report details a case of a 30-year-old woman diagnosed with PXE following a skin biopsy.
- The patient presented with pain from a semi-erupted lower first molar, and radiographic examination revealed multiple dental impactions.
- While other oral manifestations like oligodontia, amelogenesis imperfecta, and mucosal lesions have been associated with PXE, multiple dental impactions have not been previously reported.
Findings:
- Diagnosis of PXE confirmed via skin biopsy.
- Radiographic evidence of multiple dental impactions in a PXE patient.
- Identification of a novel oral manifestation associated with PXE.
Implications:
- Highlights the importance of considering PXE in patients with unexplained dental anomalies.
- Suggests a potential link between PXE and dental impactions, warranting further investigation.
- Expands the spectrum of known clinical manifestations of Pseudoxanthoma elasticum.
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