Soft-tissue mineralization in Werner syndrome.
Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities, cataracts, and an increased incidence of malignancies. We report on a 48-year-old woman with Werner syndrome associated with intracranial meningiomas who had extensive musculoskeletal manifestations including osteoporosis of the extremities, extensive tendinopathy about the ankles, osteomyelitis of the phalanges of the first left toe, abundant soft-tissue calcification, and two dense ossified soft-tissue masses, with cortical bone and trabeculae arising from the posterosuperior aspect of the calcanei and extending into Kager fat pads. A review of previous descriptions of the radiological abnormalities of Werner syndrome indicates that the presence of soft-tissue calcifications has either not been noted or been mentioned only briefly. Moreover, there is no mention of bony masses associated with Werner syndrome in the world literature, and this would appear to be the first report of this kind.
Leone
Antonio
A
Department of Radiology, Università Cattolica School of Medicine, Policlinico Agostino Gemelli, Largo A. Gemelli, 8, 00168 Rome, Italy. a.leonemd@tiscalinet.it
Costantini
Alessandro Maria
AM
Brigida
Raffaela
R
Antoniol
Onorina Monica
OM
Antonelli-Incalzi
Raffaele
R
Bonomo
Lorenzo
L
D000273:Adipose Tissue / Q000473:pathology; D002111:Calcaneus / Q000473:pathology; D003952:Diagnostic Imaging; D005260:Female; D005500:Follow-Up Studies; D016523:Foot Ulcer / Q000175:diagnosis; D006801:Humans; D007871:Leg Ulcer / Q000175:diagnosis; D008579:Meningioma / Q000175:diagnosis; D008875:Middle Aged; D009999:Ossification, Heterotopic / Q000175:diagnosis*; D010019:Osteomyelitis / Q000175:diagnosis; D010024:Osteoporosis / Q000175:diagnosis; D014898:Werner Syndrome / Q000175:diagnosis*