Premium
Progressive extreme heterotopic calcification
Author(s) -
Silengo Margherita,
Defilippi Claudio,
Belligni Elga,
Biamino Elisa,
Flex Elisabetta,
Brusco Alfredo,
Ferrero Giovanni Battista,
Tartaglia Marco,
Hennekam Raoul C.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35944
Subject(s) - ectopic calcification , calcification , etiology , pathology , disease , medicine , biology
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. © 2013 Wiley Periodicals, Inc.