Infantile Osteoma Cutis as a Presentation of a GNAS Mutation


Address correspondence to John C. Browning, M.D., Pediatric Dermatology Section, University of Texas Health Science Center, San Antonio, 7703 Floyd Curl Drive, MSC 7808, San Antonio, TX 78229-3900, or e-mail:


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.