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: Russell A Faust, Eileen M Shore, Christopher E Stevens, Meiqi Xu, Shefali Shah, C Douglas Phillips, Frederick S Kaplan
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 118A Issue 1 Pg. 71-5 (Apr 01 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12605446 (Publication Type: Journal Article)

Chemical References

• GTP-Binding Protein alpha Subunits, Gs

Topics

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