Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal

Rare genetic syndromes, conditions with a global average prevalence of 40 cases/100,000 people, are associated with anatomical, physiological, and neurological anomalies that may affect different body districts, including the oral district. So far, no classification of oral abnormalities in rare genetic syndromes is present in the literature. The aim of this narrative review is to analyze literature on rare genetic syndromes affecting dento-oro-maxillofacial structures (teeth, maxillary bones, oral soft tissues, or mixed) and to propose a classification according to the detected oral abnormalities. In addition, five significant cases of rare genetic syndromes are presented. The Scale for the Assessment of Narrative Review Articles (SANRA) was followed for this review. From 674 papers obtained through PubMed search, 351 were selected. Sixty-two rare genetic syndromes involving oral manifestations were found and classified. The proposed classification aims to help the clinician to easily understand which dento-oro-maxillofacial findings might be expected in the presence of each rare genetic syndrome. This immediate framework may both help in the diagnosis of dento-oro-maxillofacial anomalies related to the underlying pathology as well as facilitate the drafting of treatment plans with the involvement of a multidisciplinary team.

Lung carcinoma presenting as bilateral metastases in the mandibular gingivae: a case report and literature review

This case report describes the rare presentation of lung carcinoma as bilateral masses affecting the mandibular gingivae. Although metastatic disease to the mouth is rare, accounting for only 1% of oral malignancies, it is essential to ensure that the presence of cancer is included in any differential diagnosis. CPD/Clinical Relevance: All oral abnormalities persisting for longer than 3 weeks should be referred urgently for specialist assessment and biopsy.

A Report of Incontinentia Pigmenti in an 11-year-old Girl

Introduction: Incontinentia pigmenti (IP) is a rarely diagnosed x-linked dominant disease affecting tissues of ectodermal and mesodermal origin such as cutaneous tissues, teeth, eyes, hair, and the central nervous system. Dermatologic manifestations are often the first signs observed in patients diagnosed with IP and are present in nearly all the subjects, but they are less harmful and do not require treatment. Oral manifestations in patients diagnosed with IP might affect both the deciduous and permanent teeth, with tooth shape anomalies and hypodontia, delayed tooth eruption, cleft palate, and high arched palate. These oral abnormalities influence feeding, quality of life (QoL), and self-esteem of the patient but can be successfully corrected by oral rehabilitation. Case Presentation: Here, we report the case of a female patient, aged 11 years, presenting with dental manifestations such as hypodontia, conical teeth, delayed tooth eruption, narrow and atrophic dental ridge, and also some non-dental findings of IP. Her dental ‎management included oral hygiene instructions, extraction of all unrestorable primary molars, and composite filling of all primary canines. Conclusions: A removable space maintainer was constructed for the patient, which resulted in favorable esthetic outcomes, proper re-establishment of mastication, and improved self-esteem.

Diagnostic Accuracy of Oral Cancer and Suspicious Malignant Mucosal Changes among Future Dentists

This study aimed to assess the ability of dental students and recent graduates to detect and recognize mucosal changes that are suggestive of oral cancer and potentially malignant disorders. In this cross-sectional study, a questionnaire was administered to dental students and recent graduates of Ajman University (n = 132). Completed questionnaires were received from 84 (63.6%) females and 48 (36.4%) males which included fifth-year students (n = 80), interns (n = 39), and dental practitioners (n = 13). This questionnaire was designed to assess the respondent’s ability to detect and recognize different types of oral lesions, as well as their knowledge of oral cancer appearance and malignancy potential. The overall accuracy of diagnosis was 46%. The participants correctly identified normal variations, benign tumors, malignant tumors, and premalignant lesions at rates of 60.3%, 31.0%, 55.7%, and 33.4%, respectively. There was no significant difference between the two genders in their ability to recognize and detect correct answers (females, 48.3%; males, 47.2%). According to education level, interns provided the highest percentage of correct answers (52.5%), followed by newly dental practitioners (51.9%) and fifth-year students (44.1%). Conclusion: The respondents of this survey did not exhibit a satisfactory diagnostic capability in recognizing mucosal changes consistent with the clinical presentation of oral cancer. Thus, a need exists for improved and updated educational methods for undergraduate students regarding oral cancer and potentially malignant disorders. Meanwhile, practitioners should look for oral abnormalities to provide better diagnosis and management. Practitioners should also stay up to date on the oral malignancy topic by attending workshops and clinicopathological conferences.

ORO-Dental Manifestations in West Syndrome

Background: West Syndrome is a rare epileptic encephalopathy involving infantile spasms, altered electroencephalographic pattern with hypsarrhythmia, and psychomotor development delay. It arises in paediatric patients, generally within the first year of life, in symptomatic or idiopathic form depending on the presence of hereditary features or not. Case report: In this report it is described the case of a West syndrome patient affected by multiple caries, gingival enlargement, dental eruption abnormalities, high-arched palate and MIH, treated at the dental clinic of University of Bari “Aldo Moro”. Discussion: West patients present with multiple oral abnormalities, including altered eruption timing, teeth agenesis, teeth shape and position abnormalities, plaque and calculus accumulation, malocclusions and bad oral habits (mouth breathing, nails biting). Conclusion:: West Syndrome patients’ oral hygiene is generally bad due to their motor difficulty and to their low compliance towards dentists, which entails general anaesthesia to perform dental treatment. West Syndrome pharmacological treatment is usually based on antiepileptic drugs and/or ACTH. These medications are well known for their ability to induce gingival enlargement, increasing the possibility of plaque accumulation and gingivitis development.

Esthetic Rehabilitation of Familial Hypodontia: A Case Report

Dental agenesis is the most common developmental anomaly in humans and is frequently associated with several other oral abnormalities. In the literature, some terms are used to describe missing teeth like oligodontia, anodontia and hypodontia. Hypodontia is the developmental absence of one or more teeth. It can be isolated or as a part of a syndrome such as in ectodermal dysplasia. The consequences of missing teeth include abnormal occlusion or altered facial appearance which can cause psychological distress in some patients. The present case report describes case of familial hypodontia in 14 years female patient with no apparent systemic abnormalities.Birat Journal of Health Sciences 2016 1(1): 71-74