Infantile Osteoma Cutis as a Presentation of a GNAS Mutation

Authors


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: browningj3@uthscsa.edu.

Abstract

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.

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