Jaw lesions and hyperparathyroidism

Abstract

The article “Multiple Ossifying Fibromas of the Jaws: A Case Report” by Bertolini et al (J Oral Maxillofac Surg 60:225–229, 2002) reports a patient with 3 separate ossifying (or cemento-ossifying) fibromas of the jaws. An important consideration in the differential diagnosis of this case is hyperparathyroidism-jaw tumor syndrome.1National Center for Biotechnology Information: Online Mendelian Inheritance in Man, OMIM.™ Johns Hopkins University, Baltimore, MD. MIM Number: 145001: 11/27/2002. Available at: http://www.ncbi.nlm.nih.gov/omim. Accessed January 16, 2004Google Scholar, 2Carpten J.D Robbins C.M Villablanca A et al.HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.Nat Genet. 2002; 32: 676Crossref PubMed Scopus (573) Google Scholar The article does not mention any medical history or family history. In some cases of this syndrome the development of the jaw lesions predates the diagnosis of hyperparathyroidism, sometimes by several years. It would be of interest to know if the patient had any biochemical investigations and/or history of endocrine abnormalities. If not, it would be relevant to carry out appropriate investigations for hyperparathyroidism and to repeat such investigations at suitable intervals in the future. This is an important diagnosis to establish since some patients with this syndrome have subsequently developed parathyroid carcinomas.3Pidwirny G.N Szabo J Hobbs M et al.Followup of two hyperparathyroidism-jaw tumor syndrome families reported in 1971 and 1981 reveals that they are related and that parathyroid cancer is a part of the syndrome.Am J Hum Genet. 1995; 57 (abstr): A75Google Scholar Diagnosis of this condition also has important potential clinical implications for other family members because it is inherited as an autosomal dominant trait and therefore requires appropriate genetic counseling. The article “Multiple Ossifying Fibromas of the Jaws: A Case Report” by Bertolini et al (J Oral Maxillofac Surg 60:225–229, 2002) reports a patient with 3 separate ossifying (or cemento-ossifying) fibromas of the jaws. An important consideration in the differential diagnosis of this case is hyperparathyroidism-jaw tumor syndrome.1National Center for Biotechnology Information: Online Mendelian Inheritance in Man, OMIM.™ Johns Hopkins University, Baltimore, MD. MIM Number: 145001: 11/27/2002. Available at: http://www.ncbi.nlm.nih.gov/omim. Accessed January 16, 2004Google Scholar, 2Carpten J.D Robbins C.M Villablanca A et al.HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.Nat Genet. 2002; 32: 676Crossref PubMed Scopus (573) Google Scholar The article does not mention any medical history or family history. In some cases of this syndrome the development of the jaw lesions predates the diagnosis of hyperparathyroidism, sometimes by several years. It would be of interest to know if the patient had any biochemical investigations and/or history of endocrine abnormalities. If not, it would be relevant to carry out appropriate investigations for hyperparathyroidism and to repeat such investigations at suitable intervals in the future. This is an important diagnosis to establish since some patients with this syndrome have subsequently developed parathyroid carcinomas.3Pidwirny G.N Szabo J Hobbs M et al.Followup of two hyperparathyroidism-jaw tumor syndrome families reported in 1971 and 1981 reveals that they are related and that parathyroid cancer is a part of the syndrome.Am J Hum Genet. 1995; 57 (abstr): A75Google Scholar Diagnosis of this condition also has important potential clinical implications for other family members because it is inherited as an autosomal dominant trait and therefore requires appropriate genetic counseling.