Progressive osseous heteroplasia in the face of a child

Am J Med Genet A. 2003 Apr 1;118A(1):71-5. doi: 10.1002/ajmg.a.10170.

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.

MeSH terms

  • Child
  • Dermis / pathology
  • Epidermis / pathology
  • Face / physiopathology
  • Facial Bones / physiopathology*
  • Female
  • GTP-Binding Protein alpha Subunits, Gs / genetics
  • GTP-Binding Protein alpha Subunits, Gs / metabolism
  • Humans
  • Osteoma / genetics
  • Osteoma / physiopathology*

Substances

  • GTP-Binding Protein alpha Subunits, Gs