title: Infantile osteoma cutis as a presentation of a GNAS mutation.
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.
authors.affiliation: Division of Dermatology, University of Texas Health Science Center San Antonio, San Antonio, Texas, USA.
authors.forename: John
authors.initials: J
authors.lastname: Martin
authors.forename: Melissa
authors.initials: M
authors.lastname: Tucker
authors.forename: John C
authors.initials: JC
authors.lastname: Browning
mesh_terms: D002864:Chromogranins; D020405:Dermis / Q000473:pathology; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009999:Ossification, Heterotopic / Q000175:diagnosis / Q000235:genetics*; D010016:Osteoma / Q000175:diagnosis / Q000235:genetics*; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs