Mammographic findings in pseudoxanthoma elasticum

Area of Science:

• Radiology
• Pathology
• Genetics

Background:

• Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic tissues.
• Previous reports noted arterial and skin calcifications on mammograms in PXE patients.
• Anecdotal evidence suggested frequent breast biopsies for microcalcifications in women with PXE.

Purpose of the Study:

• To systematically evaluate mammographic and breast pathology findings in patients diagnosed with PXE.
• To compare mammographic characteristics between PXE patients and a control group.
• To analyze the diagnostic value of specific mammographic findings for PXE.

Main Methods:

• Compared mammograms of 51 PXE patients with 109 controls, assessing breast density, skin/vascular calcification, microcalcifications, and masses.
• Utilized t-tests and chi-squared tests to compare mammographic characteristics and indications.
• Reviewed available breast biopsy histopathology for PXE patients.

Main Results:

• PXE patients showed significantly higher rates of skin thickening, vascular calcification, and breast microcalcifications compared to controls.
• No significant differences were observed in breast density, masses, or macrocalcifications.
• Specific combinations of findings (e.g., vascular calcification, microcalcifications, skin thickening) were highly indicative of PXE.

Conclusions:

• While breast and arterial calcifications are common, their presence alongside skin thickening or axillary calcification strongly suggests PXE.
• The majority of breast calcifications observed in PXE patients are benign.
• Mammographic findings can aid in the early suspicion and diagnosis of PXE.