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Infantile osteoma cutis as a presentation of a GNAS mutation.
Pediatr Dermatol. 2012 Jul-Aug; 29(4):483-4.PD

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+Show Affiliations

Division of Dermatology, University of Texas Health Science Center San Antonio, San Antonio, Texas, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22612068

Citation

Martin, John, et al. "Infantile Osteoma Cutis as a Presentation of a GNAS Mutation." Pediatric Dermatology, vol. 29, no. 4, 2012, pp. 483-4.
Martin J, Tucker M, Browning JC. Infantile osteoma cutis as a presentation of a GNAS mutation. Pediatr Dermatol. 2012;29(4):483-4.
Martin, J., Tucker, M., & Browning, J. C. (2012). Infantile osteoma cutis as a presentation of a GNAS mutation. Pediatric Dermatology, 29(4), 483-4. https://doi.org/10.1111/j.1525-1470.2011.01469.x
Martin J, Tucker M, Browning JC. Infantile Osteoma Cutis as a Presentation of a GNAS Mutation. Pediatr Dermatol. 2012 Jul-Aug;29(4):483-4. PubMed PMID: 22612068.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Infantile osteoma cutis as a presentation of a GNAS mutation. AU - Martin,John, AU - Tucker,Melissa, AU - Browning,John C, Y1 - 2012/05/21/ PY - 2012/5/23/entrez PY - 2012/5/23/pubmed PY - 2012/12/10/medline SP - 483 EP - 4 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 29 IS - 4 N2 - 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. SN - 1525-1470 UR - https://www.unboundmedicine.com/medline/citation/22612068/Infantile_osteoma_cutis_as_a_presentation_of_a_GNAS_mutation_ L2 - https://doi.org/10.1111/j.1525-1470.2011.01469.x DB - PRIME DP - Unbound Medicine ER -