Progressive osseous heteroplasia in the face of a child.
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.
Faust
Russell A
RA
Department of Otolaryngology and Pediatrics, Children's Hospital of Michigan, Detroit, 48201, USA. rfaust@dmc.org
Shore
Eileen M
EM
Stevens
Christopher E
CE
Xu
Meiqi
M
Shah
Shefali
S
Phillips
C Douglas
CD
Kaplan
Frederick S
FS
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*
D019205:GTP-Binding Protein alpha Subunits, Gs