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Infantile Osteoma Cutis as a Presentation of a GNAS Mutation
Author(s) -
Martin John,
Tucker Melissa,
Browning John C.
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2011.01469.x
Subject(s) - gnas complex locus , pseudohypoparathyroidism , medicine , cutis , calcinosis cutis , presentation (obstetrics) , ossification , dermatology , osteoma , pediatrics , anatomy , surgery , calcification , calcinosis , genetics , parathyroid hormone , gene , biology , calcium
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.