Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers.
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.
Center for Medical Genetics, Ghent University Hospital, Belgium.
O M
OM
Vanakker
D
D
Voet
M
M
Petrovic
F
F
van Robaeys
B P
BP
Leroy
P
P
Coucke
A
A
de Paepe
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002114:Calcinosis / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007674:Kidney Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D008107:Liver Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011561:Pseudoxanthoma Elasticum / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D013158:Splenic Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D013733:Testicular Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D014463:Ultrasonography; D014781:Viscera