Hemifacial spasm secondary to vascular loop compression: a rare case report.

Hemifacial spasm (HFS) is characterised by brief, persistent, involuntary paroxysmal contractions of the facial muscles innervated by the facial nerve. Broadly its aetiology is portrayed as primary and secondary. Primary HFS is a result of vascular compression of the ipsilateral facial nerve at its root exit zone, and secondary HFS can occur after any injury to the facial nerve from the internal auditory canal to the stylomastoid foramen, which may be a result of a cerebellopontine angle tumour, schwannoma, fusiform aneurysm, or demyelinating lesion such as multiple sclerosis. We report a rare case of HFS in a 40-year-old female patient, who presented with a 4-year history of twitching of the left eye and deviation of the mouth towards the left side. An MRI of the brain revealed a vascular anomaly at the root exit zone of the left facial nerve. The present report aims to highlight MRI as a single, non-invasive diagnostic investigation to confirm the diagnosis of HFS.

18p Deletion Syndrome: Case Report with Clinical Consideration and Management.

18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities. Such presentation warrants prompt diagnosis for effective management. Furthermore, genetic counseling for such patients and their families should be considered as a part of treatment itself.

Heat shock protein (HSP70) as a marker of epithelial dysplasia in oral dysplastic lesions: A clinicopathological study.

OBJECTIVE: In the present study, expression of heat shock protein (HSP70) was evaluated and compared in oral dysplastic lesions, in particular leukoplakia (study group) and in normal mucosal tissues (control group). Additionally, correlation of HSP70 expression with clinical disease status was investigated. SUBJECTS AND METHODS: A total of 60 fresh tissue specimens were obtained from the oral cavity, consisting of 30 dysplastic cases and 30 normal mucosal tissues. The presence of epithelial dysplasia and its histologic grading was evaluated. Immunohistochemistry was carried out with the monoclonal HSP70 antibodies and expression of cytoplasmic HSP70 within the epithelium was compared between dysplastic and normal mucosal samples using Student's t-test. RESULTS: Expression of HSP70 was detected in 93% of the oral dysplastic tissues and 20% of the normal mucosal tissues. Statistical significant difference in the HSP70 expression was seen between oral dysplastic tissues and normal oral mucosal tissues (P < 0.000). The interexaminer reliability was 93.3%. Statistical significant difference was seen in the HSP70 expression between controls and different grades of dysplasia (mild, moderate and severe). There was no relationship of HSP70 expression with clinical parameters like age, sex, site of the lesion, history of adverse habits and duration of adverse habits. CONCLUSION: In the present study, HSP70 activity was significantly higher in oral dysplastic (leukoplakia) group than in the control group. Further, as the grade of dysplasia increased, the staining intensity and/or distribution increased, indicating that enhanced HSP70 expression occurs during oral carcinogenesis. Hence, it is concluded that increased HSP70 immunoexpression could be an objective marker for the presence of epithelial dysplasia.

Molecular screening of lysyl oxidase G473A polymorphism in oral submucous fibrosis.

AIM: To investigate the presence of lysyl oxidase (LOX) G473A polymorphism in group 1 {Oral submucous fibrosis (OSMF) patients}, group 2 (betel quid chewers without OSMF) and group 3 (healthy individuals). MATERIALS AND METHODS: A total of 60 patients were taken for the study, which included 20 OSMF patients (group 1), 20 betel quid chewers without OSMF (group 2) and 20 healthy individuals without OSMF and betel quid chewing habit (group 3). DNA was isolated using Qiagen kit. The isolated DNA was quantified using spectroscopic methods. Polymerase chain reaction (PCR) was carried out at annealing temperature of 67(o) C. PCR amplification was checked on 2% agarose gel. Further, the amplified PCR products were subjected to automated DNA sequencer, to assess LOX G473A polymorphism. RESULTS: The gene sequence data generated from the automated DNA sequencer was received as colored electropherograms. These gene-sequencing results did not show LOX G473A polymorphism in any of the 3 groups. CONCLUSION: In our study, gene-sequencing results did not show LOX G473A polymorphism in OSMF patients. Since only one study in the literature has shown the association of LOX gene polymorphism and OSMF patients, we conclude that further studies are required to unveil the role of LOX gene polymorphism in OSMF.

Primary intraosseous carcinoma of mandible: a case report.

Primary de novo intraosseous carcinoma is a rare neoplastic lesion which commonly occurs in the jaws. It is an epithelial odontogenic malignancy arising from odontogenic epithelial residues in the bone rather than from a preexisting epithelial lesion. In the present case report, the clinical, radiological and histological features of primary de novo intraosseous carcinoma are discussed and its aggressiveness and local invasiveness are highlighted.

Tumoral calcinosis with dental manifestations--a case report.

UNLABELLED: Tumoral calcinosis (TC) is a rare entity causing abnormal periarticular calcifications in the affected joint observed in the first two decades of life. It is also known to affect the teeth. Few case reports on TC talk about the dental findings. This article presents the clinical, radiological and histological appearance of dental abnormalities in a 23-year-old female with TC. The differential diagnosis and dental management are discussed. CLINICAL RELEVANCE: Tumoral calcinosis should be considered in the differential diagnosis of abnormally short roots with complete or partial obliteration of pulp chambers in a young patient.