Subject(s)
Gingival Diseases/diagnosis , Granuloma, Giant Cell/diagnosis , Child , Female , Humans , PigmentationABSTRACT
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an important diagnosis because of the possible involvement of other family members and risk of malignant disease. We report clinical and genetic studies in a previously undocumented Australian family with HPT-JT. The proband and his sister presented with bilateral or recurrent mandibular radiolucencies diagnosed histopathologically as cemento-ossifying fibromas. Mutation screening of the recently identified disease gene HRPT2 was performed by direct sequencing in 3 affected members. This revealed a novel mutation in exon 1 of HRPT2 (nt 20AGGACG --> GGGAG), which is predicted to inactivate the parafibromin protein through protein truncation and premature termination of translation. The terminology used for the jaw lesions in this syndrome warrants review to become more consistent. Cemento-ossifying fibroma is the preferred term to better reflect the pathologies found in most individuals and families,and to emphasize the significance of the jaw lesions in the diagnosis of the syndrome.
Subject(s)
Cementoma/genetics , Fibroma, Ossifying/genetics , Hyperparathyroidism, Primary/genetics , Mandibular Neoplasms/genetics , Adenoma/genetics , Adolescent , Adult , Australia , Cementoma/complications , Cementoma/pathology , Codon, Nonsense , DNA Mutational Analysis , Female , Fibroma, Ossifying/complications , Fibroma, Ossifying/pathology , Germ-Line Mutation , Humans , Hyperparathyroidism, Primary/complications , Hyperparathyroidism, Primary/pathology , Male , Mandibular Neoplasms/complications , Middle Aged , Parathyroid Neoplasms/genetics , Pedigree , Syndrome , Tooth Root/pathology , Tumor Suppressor Proteins/geneticsABSTRACT
AIMS: To describe 15 cases of oral focal mucinosis (OFM) and compare these to previously reported cases. METHODS: Cases diagnosed as OFM in the period 1981-2003-were reviewed. Clinical information provided at the time of submission of each specimen was retrieved and supplemented by additional clinical details provided by the respective clinician at the time of compilation of this paper. The literature was reviewed. RESULTS: OFM presented as an innocuous soft tissue swelling that may be either pedunculated or sessile. The gingiva was confirmed as the most common site for OFM, with a predominance of females affected. Microscopically, OFM is characterised by an area of myxoid tissue which is usually well-defined. The lesion is periodic acid-Schiff (PAS)-negative and alcian blue-positive, with pre-digestion with hyaluronidase preventing the alcian blue staining. As the differential diagnosis includes myxoid neural lesions, S100 staining is important in establishing the diagnosis, with cases of OFM being negative. CONCLUSIONS: The cause of OFM remains unknown. The cases presented in this paper bring OFM to the attention of anatomical pathologists when considering the differential diagnosis of myxoid lesions of the oral cavity.
Subject(s)
Mouth Diseases/pathology , Mucinoses/pathology , Adolescent , Adult , Aged , Alcian Blue , Connective Tissue/metabolism , Connective Tissue/pathology , Diagnosis, Differential , Female , Gingival Diseases/metabolism , Gingival Diseases/pathology , Histocytochemistry , Humans , Male , Middle Aged , Mouth Diseases/metabolism , Mouth Neoplasms/chemistry , Mouth Neoplasms/diagnosis , Mucins/analysis , Myxoma/chemistry , Myxoma/diagnosis , S100 Proteins/analysisABSTRACT
An unusual case of an odontogenic cyst with verrucous proliferation is described in a 13-year-old girl. This histologically distinctive odontogenic cyst variant does not appear to have been reported previously. The cyst was characterised by a series of verrucous projections in the lumen with hypergranulosis and cells resembling koilocytes, raising the possibility of a viral aetiology. However, no evidence of human papillomavirus (HPV) was found using immunohistochemistry and polymerase chain reaction (PCR) amplification.
