title: Progressive extreme heterotopic calcification.
abstract: The formation of ectopic calcifications in soft tissues can occur either sporadically or as a genetically determined condition, and is seen only infrequently. We report on a girl in whom widespread, rapidly progressive ectopic calcifications were detected shortly after birth. Calcifications became present around all joints, tendons and ligaments, but did not involve internal organs and skin, and eventually caused almost complete immobility of the child at 2 years. There were no other health problems and cognitive development was normal. We compare the manifestations in the child to the characteristics of known entities causing ectopic calcifications and conclude the child differs to each. Laboratory evaluation failed to identify autoimmune phenomena as well as calcium metabolism or other biochemical abnormalities; molecular studies did not identify occurrence of mutations in disease genes known to be involved in ectopic calcifications. We conclude the manifestations in the child represent an unreported entity of hitherto unknown etiology.
authors.affiliation: Dipartimento di Scienze della Sanità Pubblica e Pediatriche, Università di Torino, Torino, Italy. margherita.cirillosilengo@unito.it
authors.forename: Margherita
authors.initials: M
authors.lastname: Silengo
authors.forename: Claudio
authors.initials: C
authors.lastname: Defilippi
authors.forename: Elga
authors.initials: E
authors.lastname: Belligni
authors.forename: Elisa
authors.initials: E
authors.lastname: Biamino
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Flex
authors.forename: Alfredo
authors.initials: A
authors.lastname: Brusco
authors.forename: Giovanni Battista
authors.initials: GB
authors.lastname: Ferrero
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics; D002114:Calcinosis / Q000209:etiology* / Q000235:genetics; D002675:Child, Preschool; D002864:Chromogranins; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D006801:Humans; D007223:Infant; D008022:Ligaments / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D013710:Tendons / Q000473:pathology
chemical_list: D002864:Chromogranins; C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs