title: Progressive osseous heteroplasia in the face of a child.
abstract: We describe a rare case of progressive osseous heteroplasia of the face in a child. Biopsy showed osteoma cutis superficially with ectopic bone formation in the deeper tissues including skeletal muscle. Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia.
authors.affiliation: Department of Otolaryngology and Pediatrics, Children's Hospital of Michigan, Detroit, 48201, USA. rfaust@dmc.org
authors.forename: Russell A
authors.initials: RA
authors.lastname: Faust
authors.forename: Eileen M
authors.initials: EM
authors.lastname: Shore
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Stevens
authors.forename: Meiqi
authors.initials: M
authors.lastname: Xu
authors.forename: Shefali
authors.initials: S
authors.lastname: Shah
authors.forename: C Douglas
authors.initials: CD
authors.lastname: Phillips
authors.forename: Frederick S
authors.initials: FS
authors.lastname: Kaplan
mesh_terms: D002648:Child; D020405:Dermis / Q000473:pathology; D004817:Epidermis / Q000473:pathology; D005145:Face / Q000503:physiopathology; D005147:Facial Bones / Q000503:physiopathology*; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics / Q000378:metabolism; D006801:Humans; D010016:Osteoma / Q000235:genetics / Q000503:physiopathology*
chemical_list: D019205:GTP-Binding Protein alpha Subunits, Gs