Infantile Osteoma Cutis as a Presentation of a GNAS Mutation
Article first published online: 21 MAY 2012
© 2012 Wiley Periodicals, Inc.
Volume 29, Issue 4, pages 483–484, July/August 2012
How to Cite
Martin, J., Tucker, M. and Browning, J. C. (2012), Infantile Osteoma Cutis as a Presentation of a GNAS Mutation. Pediatric Dermatology, 29: 483–484. doi: 10.1111/j.1525-1470.2011.01469.x
- Issue published online: 3 JUL 2012
- Article first published online: 21 MAY 2012
Abstract: 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.