Progressive osseous heteroplasia in the face of a child |
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Authors: | Faust Russell A Shore Eileen M Stevens Christopher E Xu Meiqi Shah Shefali Phillips C Douglas Kaplan Frederick S |
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Affiliation: | Department of Otolaryngology and Pediatrics, Children's Hospital of Michigan, Detroit, 48201, USA. rfaust@dmc.org |
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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. |
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