Testicular Microlithiasis in Association with Pseudoxanthoma Elasticum

Purpose: To determine the presence of testicular microlithiasis in male subjects with pseudoxanthoma elasticum (PXE).

Materials And Methods: Institutional review board approval was obtained for the prospective and retrospective components of this HIPAA-compliant study. Informed consent was obtained from all patients or their parents. Testicular ultrasonography (US) was performed in eight men aged 29-56 years and in one 13-year-old boy, all with confirmed PXE. Two radiologists reviewed the US images by consensus for testicular microlithiasis, testicular masses, and additional testicular abnormalities. Testicular microlithiasis was judged to be classic when at least five microliths were seen on a single US image and to be limited when fewer than five microliths were seen on all obtained US images. Urologic physiologic examinations were performed. A history and/or symptoms of testicular disease also were recorded at the time of examination. Similarly, the testicular US images obtained in two additional men, aged 48 and 59 years, and in another 13-year-old boy were retrospectively reviewed. Histopathologic testicular analysis was performed in one autopsy case.

Results: Of the 12 participants, 11 (92%) had classic and one (8%) had limited testicular microlithiasis. None of the 12 participants had evidence of testicular malignancy at US or physical examination. Histopathologic analysis at autopsy revealed intratubular microlithiasis without the calcification of elastic fibers in arterial walls that is characteristic of cutaneous PXE.

Conclusion: Study findings suggested an association between PXE and testicular microlithiasis. It is possible that the testicular microlithiasis in male subjects who have PXE is related to the underlying PXE abnormality.