Search results for "Case Report"
showing 10 items of 771 documents
Young woman with Branchio-Oto-Renal Syndrome and a novel mutation in the EYA-1 gene
2011
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease clinically characterized by the coexistence of some or all of the following major disorders: deafness, cervical branchial fistulae, preauricular pits, and renal abnormalities. Most families with BOR syndrome have mutations on the EYA-1 gene on chromosome 8q. We present the case of a 23-year-old Italian woman without a familial history of BOR syndrome. The patient, who had hearing loss and a history of surgeries for correction of bilateral cervical branchial fistulae and bilateral preauricular pits, presented with renal impairment, hypertension and overt proteinuria. DNA sequencing showed a novel heterozygous mutation 1420-14…
Diffuse large B-cell lymphoma, not otherwise specified of the palate: A case report
2013
Diffuse large B-cell lymphoma (DLBCL) is the most frequent type of non-Hodgkin´s lymphoma found in oral and maxillofacial regions. A large number of cases may be biologically heterogeneous, which are commonly defined as DLBCL, not otherwise specified (NOS) by the World Health Organization (WHO-2008). The present case reports on an ulcer of raised and irregular edges, found on the border between the hard and soft palate, as the first and only manifestation of an extranodal non-Hodgkin lymphoma in an 85-year-old patient. Incisional biopsy was carried out, and the specimen revealed a proliferation of large lymphoid cells suggestive of diffuse large cell lymphoma. An immunohistochemical analysi…
Langerhans cell histiocytosis with oral manifestations: a rare and unusual case report
2012
Langerhans cell histiocytosis (LCH), is a rare, proliferative disorder in which the accumulation of pathologic Langerhans cells leads to local tissue infiltration and destruction. We present a case of a 32 years old, completely edentulous female patient who presented with erythema of hard palate, maxillary alveolar mucosa and mucosa over the distobuccal part of mandibular alveolar ridge with foci of ulcerations. Histopathologic features were suggestive of LCH which was confirmed by immunohistochemistry which was CD1a positive, confirmatory for LCH. Bone scan revealed multiple bone involvement. At this stage, disease had already progressed to multisystem involvement with endocrinal abnormali…
Peripheral giant cell granuloma associated with a dental implant : a case report
2021
Peripheral giant cell granuloma (PGCG) is a reactive exophytic lesion classified as a benign tumor of the oral mucosa. Although its etiology is not clear, it may be a consequence of local chronic irritation or persistent trauma. The objective of this case report was to document the main clinical and histopathological characteristics of a patient with a PGCG associated with a dental implant. A 36 years-old man presented a partly-ulcerated violet-colored sessile-based tumor in the buccal aspect of an implant placed in the fourth quadrant. Radiographically, the implant had one third of marginal bone loss. Differential diagnosis included PGCG and pyogenic granuloma. The implant and the lesion w…
Focal palmoplantar and gingival keratosis ? A rare genodermatoses : case report
2020
Focal palmoplantar and gingival keratosis syndrome is a rare dominant inherited disease with an early onset in life. Clinically, the condition is characterized by pressure related thickening of the epidermis of the palms and soles, usually accompanied by pain and different levels of skin involvement and thickness between patients. Recently, we observed a 38-year-old woman with multiple non-removable, painless white plaques of variable size and thickness on the attached gingiva and a white plaque widespread across the hard palate. By further questioning, the patient comments that she has thick yellowish focal plaques in both soles of her feet. Histopathological analysis revealed a hyperplast…
An unusual case report of basal cell adenoma: A Diagnostic Enchanter
2014
Oral lesions show a wide range of biologic behaviours. There are various lesions which may mimic others and present in such an unusual manner thus making them very difficult to diagnose clinico-pathologically. An accurate diagnosis is not only important for correct treatment planning but also for determination of prognosis. Thus, it is very important for a surgical pathologist to be aware of the various atypical presentations of the lesions. The present unusual case report of basal cell adenoma occurring on upper lip with frank areas of calcifications and abundant inspissated mucoid secretions is an example of one such case. BCA is an uncommon benign epithelial salivary gland neoplasm. It i…
Necrotizing sialometaplasia of the tonsillar pillar. An unusual case
2021
Necrotizing Sialometaplasia (NS) is a rare, benign, self-limited, inflammatory and necrotizing reaction of the salivary glandular tissue. Due to the clinical picture (a painful ulcer with well-defined edges), and histopathological characteristics (nuclear and cellular pleomorphism of ductal cells) NS can mimic a malignant lesion. The correct diagnosis is important because NS shows a spontaneous resolution and therefore no further treatment is needed. We report a very unusual case of spontaneous and recurrent NS located on the anterior tonsillar pillar in a 43-year old man, which clinically mimics a malignant lesion. The clinician should be aware to include NS in the differential diagnosis o…
Extraskeletal myxoid chondrosarcoma of the masticator space in a pediatric patient
2017
Extraskeletal myxoid chondrosarcoma (EMC) is a malignant soft-tissue neoplasm rarely described in the head and neck region of children and adolescents. We describe a case of EMC affecting the masticator space and a literature review. A 13-year-old boy who presented a large painless, diffuse mass causing progressive midfacial asymmetry of 6 months duration. Histopathological evaluation revealed a multinodular lesion, containing scattered round vacuolated tumor cells dispersed in an abundant myxoid stroma, separated by fibrous septae. Immunohistochemical analysis revealed positivity for vimentin, neuron-specific enolase, and chromogranin. The Ki-67 labelling index was 42%. The patient was tre…
Symmetrical palatal fibromatosis: An additional case report with immunohistochemical characterization
2021
Background The term "symmetrical palatal fibromatosis" was recently suggested to designate bilateral palatal lesions presenting as typically broad, "mirror" images on the posterior lateral region of the hard palate. Purpose We report an additional case of this as-yet poorly understood oral lesion in a 67-year-old male patient, with emphasis on differential diagnoses and immunohistochemical characterization. Case Report The histopathological examination demonstrated a hypocellular, fibrous connective tissue with prominent thick collagen bundles and few blood vessels. Scattered large, stellate, and sometimes binucleated fibroblasts were found. Immunohistochemistry was positive for vimentin an…
Pigmented odontogenic keratocyst : report of a rare case and review of the literature
2018
Pigmented odontogenic keratocyst (OKC) is very rare and its etiology remains uncertain. To the best of our knowledge, only 9 cases of pigmented OKC have been published in English-language literature. This report describes a pigmented OKC in a 14-year-old black male patient. Radiographically, the lesion appeared as a well-circumscribed, unilocular, and radiolucent image. A surgical excision was performed. Histopathological examination revealed an OKC. Additionally, a brownish, sparsed, intracytoplasmic pigmentation was observed in the basal cell layer, which was positive for Fontana-Masson staining. Immunohistochemistry reactions revealed positive dendritic cells for S-100 protein, HMB45 and…