Skeletal Radiol (2005) 34:47–51 DOI 10.1007/s00256-004-0792-8 CASE REPORT Antonio Leone Alessandro Maria Costantini Raffaela Brigida Onorina Monica Antoniol Raffaele Antonelli-Incalzi Lorenzo Bonomo Soft-tissue mineralization in Werner syndrome Received: 27 February 2004 Revised: 31 March 2004 Accepted: 31 March 2004 Published online: 11 May 2004  ISS 2004 A. Leone ( ) ) · A. M. Costantini · R. Brigida · O. M. Antoniol · L. Bonomo Department of Radiology, Università Cattolica School of Medicine, Policlinico “Agostino Gemelli”, Largo A. Gemelli, 8, 00168 Rome, Italy e-mail: a.leonemd@tiscalinet.it Tel.: +39-06-30154977 Fax: +39-06-35501928 R. Antonelli-Incalzi Department of Geriatrics, Università Cattolica School of Medicine, Policlinico “Agostino Gemelli”, Largo A. Gemelli, 8, 00168 Rome, Italy Abstract Werner syndrome is a rare autosomal recessive disorder charac- terized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormali- ties, cataracts, and an increased inci- dence of malignancies. We report on a 48-year-old woman with Werner syndrome associated with intracranial meningiomas who had extensive musculoskeletal manifestations in- cluding osteoporosis of the extremi- ties, 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 cor- tical bone and trabeculae arising from the posterosuperior aspect of the calcanei and extending into Kager fat pads. A review of previous descrip- tions of the radiological abnormali- ties of Werner syndrome indicates that the presence of soft-tissue calci- fications has either not been noted or been mentioned only briefly. More- over, there is no mention of bony masses associated with Werner syn- drome in the world literature, and this would appear to be the first report of this kind. Keywords Werner syndrome · Soft tissues · Calcification · Lower extremity · Imaging Introduction Werner syndrome, first described in 1904 by Otto Werner [1], manifests as an accelerated and exaggerated form of the human aging process. Its phenotype also includes short stature with slender extremities, beak-shaped nose, ocular cataracts, atrophic changes in the skin, and sub- cutaneous fat loss often associated with cutaneous ulcers of the legs, hypogonadism, and tendency to diabetes [2, 3, 4, 5]. There is non gender dominance, and a much higher incidence of the disease has been encountered among Japanese and Caucasian populations in whom consan- guineous marriages are common [6]. Most patients die in their forties, and death usually is caused by a myocardial infarction or complications of neoplasm [6]. There is an increased incidence of neoplasms such as sarcoma, men- ingioma, melanoma, and thyroid cancer associated with Werner’s syndrome [5, 6]. The musculoskeletal manifes- tations of this syndrome may include osteoporosis local- ized to the extremities or generalized osteoporosis, os- teosclerosis of the phalanges, osteomyelitis and septic ar- thritis, and neurotrophic changes and soft-tissue calci- fication [3, 7, 8, 9]. The purpose of this case report is to illustrate the heterotopic soft-tissue mineralization in Werner syndrome. Case report A 48-year-old woman with Werner syndrome was referred to our institution complaining of pain of the lower extremities and feet because of multiple confluent ulcers characterized by very slow healing (Fig. 1). Since age 20, she had noted thinning, premature graying of her hair, and mild hair loss. At 23 years of age, she underwent extraction of cataracts in each eye, and she was diag- nosed as having multinodular colloid cystic goiter. Menopause occurred at 30 years, and the patient began receiving conjugated estrogens and progesterone 1 year after her last menstrual period. In 1990, the patient was admitted to another institution for evaluation. For the past few years, she had noted a progressive loss of skin and