Alkhatib, A., Burton, L. E. and Carachi, R. (2014) Familial tumoral calcinosis. Scottish Medical Journal, 59(4), e17-e20. (doi: 10.1177/0036933014557416) (PMID:25351424)
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Abstract
Introduction: Tumoral calcinosis is a rare condition characterised by progressive, ectopic, periarticular deposits of calcium. These tumour-like growths often infiltrate muscle and tendon, usually presenting as multiple masses or as a painless, solitary mass. Our case report will focus on familial tumoral calcinosis, an autosomal recessive metabolic disorder generally observed in patients within the first two decades of life.
Case presentation: Our case report introduces two Sudanese siblings from consanguineous parents who presented with simultaneous recurrent multiple soft tissue swellings. Conclusion: The cases discussed highlight the main features of familial tumoral calcinosis and indicate the need for improved clinical guidance on the investigations, treatment and genetic screening of familial tumoral calcinosis.| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Carachi, Professor Robert |
| Authors: | Alkhatib, A., Burton, L. E., and Carachi, R. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing |
| Journal Name: | Scottish Medical Journal |
| Publisher: | SAGE Publications |
| ISSN: | 0036-9330 |
| ISSN (Online): | 2045-6441 |
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