title: Familial tumoral calcinosis.
abstract: BACKGROUND
  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.
  
  
  METHODS
  Our case report introduces two Sudanese siblings from consanguineous parents who presented with simultaneous recurrent multiple soft tissue swellings.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Consultant Paediatric Surgeon, Department of Paediatric Surgery, Khartoum Teaching Hospital, Sudan Consultant Paediatric Surgeon, Department of Paediatric Surgery, Latifa Hospital, Dubai, United Arab Emirates.
authors.forename: Amal
authors.initials: A
authors.lastname: Alkhatib
authors.affiliation: Medical Student, School of Medicine, University of Glasgow, UK.
authors.forename: Laura E
authors.initials: LE
authors.lastname: Burton
authors.affiliation: Professor of Surgical Paediatrics, Department of Surgical Paediatrics, Royal Hospital for Sick Children, UK robert.carachi@glasgow.ac.uk.
authors.forename: Robert
authors.initials: R
authors.lastname: Carachi
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D002114:Calcinosis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D002130:Calcium Phosphates / Q000378:metabolism*; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use*; D005260:Female; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011788:Quality of Life; D012008:Recurrence; D016896:Treatment Outcome
chemical_list: D002130:Calcium Phosphates; D002257:Carbonic Anhydrase Inhibitors; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23; C020243:calcium phosphate; D000086:Acetazolamide
keywords: Familial; calcinosis; metabolic; paediatrics