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Updated: Jul 19, 2026
07:25
Ultrasonographic Evaluation of Salivary Glands for Sjogren's Syndrome: Diagnostic and Monitoring Insights
Published on: October 13, 2023
Pseudoxanthoma elasticum masquerading as Sjögren's syndrome
Brian E Daikh1, John J Kalmar, Christopher T Ritchlin
1Clinical Immunology and Rheumatology Unit, Strong Memorial Hospital, University of Rochester Medical Center, Rochester, New York 14642, USA. brian_daikh@urmc.rochester.edu
Summary
Pseudoxanthoma elasticum (PXE) can present with dry eyes and mouth. This case highlights PXE diagnosis in a patient with sicca symptoms, suggesting potential salivary gland involvement in PXE.
Area of Science:
- Genetics and Rare Diseases
- Ophthalmology
- Dermatology
- Rheumatology
Background:
- Pseudoxanthoma elasticum (PXE) is an inherited disorder characterized by abnormal calcification of elastic fibers.
- PXE primarily affects the skin, retina, and cardiovascular system.
- Sicca symptoms, such as dry eyes and mouth, are not typically associated with PXE.
Purpose of the Study:
- To report a case of pseudoxanthoma elasticum presenting with sicca symptoms.
- To discuss the potential association between PXE and keratoconjunctivitis sicca.
- To emphasize the importance of considering PXE in patients with unexplained sicca symptoms.
Main Methods:
- Clinical presentation of a patient with dry eyes and mouth, and keratoconjunctivitis sicca.
- Lip biopsy for suspected Sjögren's syndrome.
- Histopathological examination of the biopsy.
- Evaluation for cutaneous and ophthalmologic findings consistent with PXE.
Main Results:
- Histologic findings from the lip biopsy were diagnostic of pseudoxanthoma elasticum, not Sjögren's syndrome.
- The patient subsequently exhibited skin and eye manifestations of PXE.
- Ro and La antibodies, typically seen in Sjögren's syndrome, were negative.
Conclusions:
- Pseudoxanthoma elasticum should be considered in the differential diagnosis of patients presenting with sicca symptoms, especially when accompanied by cutaneous or ophthalmologic abnormalities.
- Salivary gland involvement in PXE may contribute to the observed sicca symptoms.
- Early diagnosis of PXE necessitates careful monitoring for associated systemic complications.
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