Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers

Br J Radiol. 2006 Mar;79(939):221-5. doi: 10.1259/bjr/20801330.

Abstract

Occasionally calcifications in abdominal organs, breasts and testicles have been reported in pseudoxanthoma elasticum (PXE) patients. In the present study, an ultrasound evaluation was performed of the abdomen and--in male patients--of the testicles in 17 PXE patients and 17 heterozygous carriers. Blood samples were taken to evaluate calcium load, liver and kidney function. Calcifications in liver, kidneys and spleen were detected in 59% of the patients and in 23.5% of healthy carriers. Parameters of kidney and liver function were normal in both groups, suggesting that the calcifications have no direct effect on organ function. Testicular ultrasound revealed parenchymous calcifications in all males investigated. Widespread, small hyperechogenic foci resembling testicular microlithiasis were seen. In some carriers, focal calcifications were identified. The current data suggest that visceral and testicular calcifications are part of the phenotype of PXE patients. Their presence in some of the healthy carriers are suggestive of subclinical manifestations in these relatives. The natural history and long-term effects of the parenchymal calcifications remain to be elucidated. As testicular microlithiasis may be associated with a higher risk for malignancy, regular clinical and ultrasound follow-up seems indicated in these patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Calcinosis / diagnostic imaging*
  • Calcinosis / genetics
  • Calcinosis / pathology
  • Heterozygote
  • Humans
  • Kidney Diseases / diagnostic imaging*
  • Kidney Diseases / genetics
  • Kidney Diseases / pathology
  • Liver Diseases / diagnostic imaging*
  • Liver Diseases / genetics
  • Liver Diseases / pathology
  • Male
  • Middle Aged
  • Phenotype
  • Pseudoxanthoma Elasticum / diagnostic imaging*
  • Pseudoxanthoma Elasticum / genetics
  • Pseudoxanthoma Elasticum / pathology
  • Splenic Diseases / diagnostic imaging*
  • Splenic Diseases / genetics
  • Splenic Diseases / pathology
  • Testicular Diseases / diagnostic imaging*
  • Testicular Diseases / genetics
  • Testicular Diseases / pathology
  • Ultrasonography
  • Viscera