seudoxantoma 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.
Case ReportA 9-year-old boy was referred for a left-sided undescended testis. Pseudoxantoma elasticum was diagnosed because of skin abnormalities in the neck, in the armpits, around the umbilicus, and on the lower part of the abdomen (Figure 1). DNA analysis confirmed the diagnosis of PXE (P.R1141X mutation in the adenosine triphosphate-binding cassette subfamily C member 6 [ABCC6] gene). His 13-year-old sister also had a diagnosis of PXE (same P.R1141X mutation in the ABCC6 gene) with similar skin abnormalities in the neck and armpits. In his 15-year-old brother, no indications for PXE were found. Both parents were identified as carriers of the PXE gene (P.R1141X mutation). The boy had left-sided orchidopexy at 2 years for a congenital undescended testis. On examination after his referral at 9 years, the left testis again appeared to be undescended, and a diagnosis of a secondary acquired undescended testis was made.