Oro-facial-digital syndrome type I: a case report with novel features

Oro-facial-digital syndrome is a group of rare heterogeneous hereditary disorders characterized by abnormalities of the oral cavity, face and digits, along with varying degrees of mental retardation. Currently, Oro-facial-digital syndrome has been classified into 14 types and two additional unclassified variants have been proposed. Amongst the various variants described, Oro-facial-digital syndrome type I is the most common. We report an interesting subclinical sporadic case of Oro-facial-digital syndrome type I in a 21-year-old female patient. Interestingly, our patient presented with a few novel hitherto unreported clinical findings like midline pits in the philtrum area and a hamartomatous proliferation of tissue in the anterior maxillary alveolar gingival region. This case report highlights the importance of prudent histopathological-clinical correlation, which can direct the flow of clinical investigations leading to the detection and diagnosis of unsuspected conditions as learned in this case. We would also like to emphasize that comprehensive examination of new born for structural abnormalities of the orofacial region is crucial to early diagnosis of syndromes and subsequent referral for further evaluation and management.

Clinico-pathological correlations of odontogenic tumors: Some critical observations based on a 20 year institutional study and a comprehensive review of literature

Context: Odontogenic tumors (OTs) represent a rare subset of pathologies of the oral and maxillofacial region. The classification of OTs has undergone several changes over the years due to a lack of uniform international identification criteria. The histomorphological similarity and the many variations in behavioral patterns elaborated by these lesions warrant research. Aims: Using the update from the fourth edition of the World Health Organisation Classification of Head and Neck Tumors (2017), this dental institution carried out an epidemiological study on OTs in the state of Goa (India) and compared the data obtained with similar studies on OTs done within India. Materials and Methods: The clinical and pathological data of OTs from August 1996 to December 2016 was retrieved from the oral and maxillofacial pathology department archives, belonging to the lone dental college and hospital in the state of Goa, India. Demographic data such as frequency, age, gender, and site along with pathological subtype was analysed. Statistical Analysis Used: Descriptive analysis (i.e. frequency of age, gender, and location), Chi-Square Test and Fischer Exact test. Results: The relative frequency of OTs was 2.61% of all oral biopsied specimens. The most common OT encountered was ameloblastoma (57.9%). The posterior aspect of the mandible was the most favored site (77.2%). The frequency of OTs decreased after the fourth decade. An overall marginal male predilection (55%) was seen. Conclusions: This study contributes to the establishment of a comprehensive loco-regional epidemiological database on OTs in India, aiding research on their aetio-pathogenesis and diagnosis.