Infantile osteoma cutis as a presentation of a GNAS mutation

John Martin, Melissa Tucker, John C. Browning

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations


We report a case of osteoma cutis associated with a GNAS mutation in a 7-month-old boy. The patient displayed no other laboratory or physical abnormalities to suggest other GNAS-associated disorders of cutaneous ossification, including Albright's hereditary osteodystrophy or pseudohypoparathyroidism 1A, although a history of intrauterine growth restriction was troubling for progressive osseous heteroplasia. A review of the clinical and laboratory manifestations of these disorders is discussed, as well as differentiating features.

Original languageEnglish (US)
Pages (from-to)483-484
Number of pages2
JournalPediatric dermatology
Issue number4
StatePublished - Jul 2012

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology


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