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Testicular Microlithiasis in a 2-Year-Old Boy With Pseudoxanthoma Elasticum

Department of Pediatrics, Medical Centre Alkmaar, Alkmaar, the Netherlands (J.G., W.W.M.H., K.S.); and Division of Environment and Health, Netherlands Organization for Applied Scientific Research TNO, Delft, the Netherlands (F.H.P.).

Address correspondence to Joery Goede, MD, Department of Pediatrics, Medical Centre Alkmaar, Wilhelminalaan 12, 1815 JD Alkmaar, the Netherlands. E-mail: j.goede{at}mca.nl

Pseudoxantoma elasticum (PXE) is a rare chromosomal disorder that results in mineralization of elastic fibers, especially in the skin, eye, and cardiovascular system. Recently, PXE has been associated with testicular microlithiasis (TM),¹ which itself might be associated with testicular malignancy.² Here we report on a 9-year-old boy with PXE who already had TM at 2 years. To our knowledge, this is the youngest patient with PXE in whom TM is documented.

Abbreviations: ABCC6, adenosine triphosphate–binding cassette subfamily C member 6 • PXE, pseudoxantoma elasticum • TM, testicular microlithiasis