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Localized inflammatory or reactive overgrowths are quite more common clinical findings on human gingiva. Most of the lesions are benign and innocuous though some have potency to transfer in to a malignant lesion. These types of lesions are difficult to identify clinically as their appearance are quite similar so only Histopathological evaluation can detect their identity. In this case report we displayed a case of Peripheral Ossifying Fibroma in maxillary anterior tooth region in 32 year old female patient along with clinical, Histopathological evaluation along with present and future treatment details. Peripheral ossifying fibroma (POF) is usually a fibromatic, non neoplastic enlargement of the gingiva which shows areas of calcification or ossification. Synonyms for POF include Peripheral cementifying fibroma, Peripheral fibroma with calcification, Calcifying or ossifying fibrous epulis and Calcifying fibroblastic granuloma. Keywords: Gingival overgrowth, Ossifying fibroma, Peripheral ossifying fibroma, Peripheral cementifying fibroma

White sponge nevus (WSN) is a hereditary mucocutaneous leukokeratosis due to an altered expression of CK 4 and CK 13 genes, thereby causing a defect in keratinization. We report the case of WSN in a 27-year-old who presented with a complaint of white, painless patches in both the cheek mucosa since childhood. The patient was examined and the biopsy was done. Based on the clinical findings, inheritance pattern, and histopathological features, a diagnosis of WSN was made. The patient responded well to our novel treatment approach with amoxicillin suspension (250 mg/5 ml). Regarding the treatment of WSN, no definite pharmacological therapy is available till date. We report this case to emphasize that amoxicillin suspension topical therapy may be used as a novel treatment measure with its unique advantages.

Oral squamous cell carcinoma of the gingivo-buccal region (OSCC-GB) accounts for the highest cancer morbidity and mortality among men in India. It has been observed that about one-third of individuals with oral leukoplakia, a dysplastic precancerous lesion in the oral cavity, progress to oral cancer. We aimed to identify systematic transcriptomic changes as a normal tissue in the oral cavity progresses to frank OSCC-GB. Seventy-two OSCC-GB patients, from multiple hospitals, were recruited, and transcriptome analysis of tumor and adjacent normal tissue (of all patients) and adjacent leukoplakia tissue (of a subset of 25 unselected patients with concomitant leukoplakia) was performed. We have identified many differences in the transcriptomic profiles between OSCC-GB and squamous cell carcinoma of the head and neck regions. Compared to the normal/precancerous tissue, significant enrichment of ECM−receptor interaction, PI3K-Akt signaling, cytokine−cytokine receptor interaction, focal adhesion, and cell cycle pathways were observed in OSCC-GB. Using gene set enrichment analysis, we identified a profound role of interferon receptor signaling in tumor growth by activating immune evasion mechanisms. The role of tumor-infiltrating immune cells further supported the growth and immunosuppressive mechanism of tumor tissues. Some immune evasion genes—CD274, CD80, and IDO1—were found to be activated even in the precancerous tissue. Taken together, our findings provide a clear insight into the sequential genetic dysregulation associated with progression to oral cancer. This insight provides a window to the development of predictive biomarkers and therapeutic targets for gingivo-buccal oral cancer.

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is a type of genodermatoses having an autosomal dominant inheritance pattern and is recently considered as a RASopathy. Such patients are very much prone to develop mesenchymal tumors. However, carcinomas are quite rare in NF1 patients. This case study is the first case of oral squamous cell carcinoma (SCC) in tongue of an NF1 patient. A 35-year-old male reported to the Department of Oral Pathology in a tertiary care center with a chief complain of a painful ulcer on tongue for last 1 month. For confirmation of diagnosis of NF1, the “Diagnostic Criteria for Neurofibromatosis Type 1” was followed. Biopsied specimen of the tongue lesion was examined under microscope and histopathological features were suggestive of infiltrating SCC. Immunohistochemistry with Pan CK and beta-catenin was positive. RASopathy, WNT–beta-catenin pathway alteration, heat shock factor 1 production, and miRNA activity are investigated to explain the pathogenesis of malignancies in NF1 patients. In this first case of tongue SCC, we have found out the altered WNT–beta-catenin pathway.

It is hypothesized that same driver gene mutations should be present in both oral leukoplakia and cancer tissues. So, we attempted to find out mutations at one of the driver genes, CASP8, in cancer and adjacent leukoplakia tissues. Patients (n = 27), affected by both of cancer and adjacent leukoplakia, were recruited for the study. Blood and tissue DNA samples were used to identify somatic mutations at CASP8 by next generation sequencing method. In total, 56% (15 out of 27) cancer and 30% (8 out of 27) leukoplakia tissues had CASP8 somatic mutations. In 8 patients, both cancer and adjacent leukoplakia tissues, located within 2-5 cm of tumor sites, had identical somatic mutations. But, in 7 patients, cancer samples had somatic mutations but none of the leukoplakia tissues, located beyond 5cm of tumor sites, had somatic mutations. Mutated allele frequencies at CASP8 were found to be more in cancer compared to adjacent leukoplakia tissues. This study provides mutational evidence that oral cancer might have progressed from previously grown leukoplakia lesion. Leukoplakia tissues, located beyond 5cm of cancer sites, were free from mutation. The study implies that CASP8 mutation could be one of the signatures for some of the leukoplakia to progress to oral cancer.

Hanhart syndrome is a rare congenital and genetic disease, in which the most common signs are short, incompletely developed tongue (hypoglossia), absent or partially missing fingers and/or toes (hypodactylia), malformed arms and/or legs (peromelia), and small jaw (micrognathia). Here, we report a case of Hanhart syndrome in an 18-year-old boy. The boy presented with few extraoral and intraoral abnormalities such as short toes and phalanges along with partial syndactyly in the left hand only were the most relevant. Other features such as micro and retrognathic face, incompetent lips, and wide nasal bridge were also significant. The boy was suffering for difficulties in speech and swallowing due to small tongue size, high arched palate, crowding, and few missing teeth. To provide adequate treatment to a patient with Hanhart syndrome, this study aimed to review and to analyze this literature and treatment protocols.

Objective Growth retardation–alopecia–pseudoanodontia–optic atrophy (GAPO) syndrome (Online Mendelian Inheritance in Man [OMIM] ID 230740) is one of the rarest autosomal recessive syndromes. It is characterized by many phenotypes, including wide anterior fontanel, frontal bossing of the face, depressed nasal bridge, along with the 4 classic phenotypes contained in the name of the syndrome. Recent reports identified nonsense, missense, and splicing mutations at different exons of ANTXR1 responsible for GAPO syndrome in patients from different ethnic populations. Here, we are reporting a mutation at ANTXR1 in an Indian patient with GAPO syndrome. Study design We describe an inherited mutation at ANTXR1 in a 6-year-old Indian boy with GAPO syndrome. Results Genomic DNA from the patient with the GAPO syndrome and his family members were screened for previously reported mutations at ANTXR1 by sequencing. Novel homozygous and heterozygous mutations in exon-3 of ANTXR1 (c.265 G > A, p.Gly89 Arg) were identified in the patient and in other members of the family, respectively. However, no mutated allele was identified in genomic DNA from unrelated healthy individuals. Bioinformatic analysis by different tools predicted the deleterious, damaging, or aberrant splicing effect of mutation on the protein. Conclusions Functional inefficiency of ANTXR1 as a result of mutation might have led to GAPO syndrome.

Oral squamous cell carcinoma (OSCC) is a common oncological problem in India. However, the frequency of developing synchronous carcinomas, i.e., development of second primary tumor (SPT) either simultaneously or within 6 months of the index tumor, in the orofacial region are rare and ranges from 8% to 21%. These lesions are more aggressive, treatment-resistant, and metastasize early. The onset of SPT decreases the 5-year survival by 18–30% as compared to those with a single tumor. Astonishingly, it was found that synchronous OSCCs showed 100% male predominance, with no female predilection. This case of synchronous OSCC in a 58-year-old female had an index tumor involving right side of the mandible and a SPT in the left buccal mucosa. Both the lesions were histopathologically diagnosed well-differentiated squamous cell carcinoma. Hence, the importance of reporting this case lies on the rarity, aggressiveness, and poor prognosis of the lesion and the patient being a female.

Complex regional pain syndrome (CRPS) with localized erythema and hyperthermia of skin can be a perplexing clinical situation and has created varied diagnostic dilemmas for clinicians. Various cases of CRPS in the extremities have been documented, but in the head neck region, it is quite uncommon and only 13 cases have been reported since 1947 and here lies the importance of reporting the case. A 30-year-old female reported to the OPD with complain of severe pain, occasional swelling, change in overlying skin temperature, and color in left lower one-third region of face near mandibular angle since 2½ years. She had a trauma to that region 3 years back. The history and clinical examination revealed that the patient met “Budapest Clinical Criteria” for diagnosis of CRPS Type II and was treated with amitriptyline, pregabalin, methylcobalamine, steroids, and other supportive treatments. The patient showed marked improvement in pain control. Therefore, history and clinical examination and early diagnosis are crucial for the better treatment outcome in CRPS Type II.

Deregulation of miRNA expression may contribute to tumorigenesis and other patho-physiology associated with cancer. Using TLDA, expression of 762 miRNAs was checked in 18 pairs of gingivo buccal cancer-adjacent control tissues. Expression of significantly deregulated miRNAs was further validated in cancer and examined in two types of precancer (leukoplakia and lichen planus) tissues by primer-specific TaqMan assays. Biological implications of these miRNAs were assessed bioinformatically. Expression of hsa-miR-1293, hsa-miR-31, hsa-miR-31* and hsa-miR-7 were significantly up-regulated and those of hsa-miR-206, hsa-miR-204 and hsa-miR-133a were significantly down-regulated in all cancer samples. Expression of only hsa-miR-31 was significantly up-regulated in leukoplakia but none in lichen planus samples. Analysis of expression heterogeneity divided 18 cancer samples into clusters of 13 and 5 samples and revealed that expression of 30 miRNAs (including the above-mentioned 7 miRNAs), was significantly deregulated in the cluster of 13 samples. From database mining and pathway analysis it was observed that these miRNAs can significantly target many of the genes present in different cancer related pathways such as "proteoglycans in cancer", PI3K-AKT etc. which play important roles in expression of different molecular features of cancer. Expression of hsa-miR-31 was significantly up-regulated in both cancer and leukoplakia tissues and, thus, may be one of the molecular markers of leukoplakia which may progress to gingivo-buccal cancer.