M. A. Lopes

Cleidocranial dysplasia: oral features and genetic analysis of 11 patients

BACKGROUND Cleidocranial dysplasia (CCD) is a dominantly inherited autosomal disease characterized by typical bone defects including short stature, persistently open or delayed closure of the cranial sutures, and hypoplastic or aplastic clavicles. Oral features are frequent and include supernumerary teeth, delayed eruption or impaction of the permanent teeth, and malocclusion. Heterozygous mutations in RUNX2 gene, which encodes a transcription factor essential for osteoblast differentiation, were identified as the etiological cause of CCD. OBJECTIVE AND METHODS Herein, we performed physical and radiographic examination and screening for RUNX2 mutations in 11 patients from five families with CCD. RESULTS All patients demonstrated the classical phenotypes related to CCD. Families whose affected members had several dental alterations such as multiple impacted and supernumerary teeth demonstrated heterozygous missense mutations (R190Q and R225Q) that impair the runt domain of RUNX2. On the other hand, CCD patients from families with low frequency of dental abnormalities showed no mutation in RUNX2 or mutation outside of the runt domain (Q292fs→X299). CONCLUSION The current findings suggest a correlation between dental alterations and mutations in the runt domain of RUNX2 in CCD patients. Further clinical and genetic studies are needed to clarify the relationship between phenotypes and genotypes in CCD and to identify other factors that might influence the clinical features of this uncommon disease.

Lingual cyst with respiratory epithelium: a histopathological and immunohistochemical analysis of two cases

Cysts of the tongue are rare, usually derived from epithelia of the embryonic gastrointestinal and respiratory tracts, and classified according to the predominant epithelium lining. These cysts are usually discovered during infancy, more frequently in males, but they may not appear until well into adulthood. The authors report two lingual cysts lined mainly with respiratory, and focally by squamous, epithelium. Periodic acid-Schiff and mucicarmine staining revealed focal positivity in intracystic mucoid material and goblet cells. Immunohistochemical analysis with vimentin, cytokeratins (AE1/AE3, 34betaE12, CK1, CK5, CK6, CK7, CK8, CK10, CK13, CK14, CK16, CK18, and CK19), E-cadherin, beta-catenin, and epithelial membrane antigen showed a similar profile of normal respiratory epithelium, suggesting well-differentiated states. Owing to their controversial origin, these cysts should be named descriptively, as suggested by Manor et al., as lingual cysts with respiratory epithelium.

Cell proliferation and p53 expression in pseudoepitheliomatous hyperplasia of oral paracoccidioidomycosis

Paracoccidioidomycosis (PCMycosis) is a systemic mycosis frequently found in many regions of Latin America. Microscopically, it is characterised by granulomatous inflammation and pseudoepitheliomatous hyperplasia (PEH). This work describes the proliferation index and p53 expression by immunohistochemistry in PEH of PCMycosis, normal oral mucosa (NOM) and mild oral epithelial dysplasia (ED). Ki67 positive cells were present in the basal and parabasal layers in NOM and PEH, while in ED it was also observed in the spinous layer. Percentage of ki67 positive cells was 7.7, 28.2 and 46.0 in NOM, PEH and ED respectively. p53 was negative in NOM and in PEH it was expressed by few cells in the basal layer of only three cases. However, it was expressed in all cases of ED, in basal and parabasal layers. Although histologically PEH mimics well‐differentiated squamous cell carcinoma, its proliferative pattern and p53 expression are more similar to NOM than to dysplasia. These findings, confirm PEH as a reactive process probably associated with the underlying chronic inflammation.

Cytokeratin expression in pseudoepitheliomatous hyperplasia of oral paracoccidioidomycosis

Paracoccidioidomycosis (Pmycosis) is one the most prevalent deep systemic mycoses in Latin America. It is characterized by granulomatous inflammation and pseudoepitheliomatous hyperplasia. Cytokeratins (CKs) are a group of intermediate filaments of epithelial cells and their expression varies according to the epithelium type, differentiation and pathological processes. This study describes cytokeratin expression as examined by immunohistochemistry, in 28 cases of oral Pmycosis involving the buccal mucosa, lip, gingiva and hard palate. Expression of CKs in the basal layer of the epithelium in pseudoepitheliomatous hyperplasia of Pmycosis was similar to that in normal oral mucosa (NOM), but in Pmycosis CK1 and CK10 were not expressed in the spinous and superficial layers of the lip, gingiva or hard palate, and, in the spinous and superficial layers of the lip and buccal mucosa, CK14 was positive in contrast to NOM where it was negative. In Pmycosis, CK6 was more frequently expressed in the spinous layer of the lip, gingiva and hard palate, but nevertheless CK16 expression was decreased in the spinous and superficial layers of the gingiva and hard palate. We conclude that pseudoepitheliomatous hyperplasia in oral Pmycosis shows a different pattern of CK expression, particularly CKs 1, 10 and 14, compared with NOM.

Transition from glass to digital slide microscopy in the teaching of oral pathology in a Brazilian dental school.

Objectives: Several medical and dental schools have described their experience in the transition from conventional to digital microscopy in the teaching of general pathology and histology disciplines; however, this transitional process has scarcely been reported in the teaching of oral pathology. Therefore, the objective of the current study is to report the transition from conventional glass slide to virtual microscopy in oral pathology teaching, a unique experience in Latin America. Study Design: An Aperio ScanScope® scanner was used to digitalize histological slides used in practical lectures of oral pathology. The challenges and benefits observed by the group of Professors from the Piracicaba Dental School (Brazil) are described and a questionnaire to evaluate the students’ compliance to this new methodology was applied. Results: An improvement in the classes was described by the Professors who mainly dealt with questions related to pathological changes instead of technical problems; also, a higher interaction with the students was described. The simplicity of the software used and the high quality of the virtual slides, requiring a smaller time to identify microscopic structures, were considered important for a better teaching process. Conclusions: Virtual microscopy used to teach oral pathology represents a useful educational methodology, with an excellent compliance of the dental students. Key words:Digital microscopy, virtual microscopy, dental education, virtual slides, oral pathology.

Fine needle aspiration cytology in the diagnosis of cervical tuberculosis and paracoccidioidomycosis.

Dear Editor, Fine needle aspiration cytology (FNAC) has been used for diagnosing tumours, infectious diseases and reactive disorders and can be useful for staging malignancies and monitoring recurrences. The chronic infectious conditions most associated with enlarged cervical lymph nodes include tuberculosis, actinomycosis, paracoccidioidomycosis (Pmycosis), leprosy and toxoplasmosis. Here, we describe two patients with systemic infectious diseases manifesting as cervical lymphadenopathy where the diagnosis was established by FNAC.

Subgemmal neurogenous plaque associated with burning tongue: report of two cases and review of the literature §

Subgemmal neurogenous plaques, biphasic structures with a neurofibroma and neuroma patterns, are observed in tongue biopsies involving subepithelial areas, being characterized as aggregates of nerve plexus and ganglion cells. Oral burning symptoms, having many possible causes, are commonly observed during oral medicine practice, but the association of subgemmal neurogenous plaque with tongue burning symptoms is very unusual. Reported here are two cases of focal burning sensation in the lateral border of the tongue diagnosed as subgemmal neurogenous plaque through biopsy. Recognizing this entity is important to avoid misdiagnosis of other neural proliferations, especially in cases involving focal tongue burning.

Cytological features of intraoral tumour

Canalicular adenoma is an uncommon, benign salivary gland tumour, which occurs almost exclusively in the intraoral salivary glands. The upper lip is the most common site, accounting for about 80% of all cases, followed by the buccal mucosa and palate. It is commonly diagnosed in patients after 60 years of age and appears as a painless, slowly growing submucosal mass, smaller than 2 cm in dimension. The overlying mucosa may be normal, erythematous or have a bluish tint, similar to a mucocele. Histologically, a canalicular adenoma is composed of cords of columnar and cuboidal cells with occasionally small cystic spaces in between. Commonly, there is also a connective tissue capsule. Based on ultrastructural and histochemical findings, some authors have suggested that the canalicular adenoma could possibly be of excretory duct origin, although intercalated duct origin has also been mentioned. Only a few detailed studies about the cytopathological features of the canalicular adenoma were previously published in the English-language literature. One study using fine needle aspiration biopsy (FNAB) described canaliculi and papillae lined by a layer of columnar epithelium consisting of columnar cells with round, basal nuclei and clear cytoplasm. Here, we describe in detail the clinical, cytological and histological features of two intraoral canalicular adenomas and emphasize the cytological differential diagnosis. Case reports

Metastatic cervical carcinoma of the jaw presenting as periapical disease.

AIM To present a case report of a metastasis from cervical cancer to the maxilla, which was misdiagnosed as periapical disease and to caution clinicians that metastases could have a disguised clinical presentation that must be taken into account in the differential diagnosis of periapical disease in oncologic patients. SUMMARY Although metastatic tumours of the jaws are uncommon, they may mimic benign inflammatory processes and reactive lesions. The ability of metastatic lesions to mimic periapical disease is discussed and a brief review of the literature is presented, emphasizing the importance of correct diagnosis to prevent delay in diagnosing cancer. Attention should therefore be given to the patients medical history, especially of those with a previous history of cancer, and all dental practitioners should be aware of the possibility of metastases that may be confused with periapical disease. Finally, endodontists are well placed to recognize malignant and metastatic oral lesions during the initial clinical stages, given that their treatments are usually based on frequent dental appointments and long-term follow-ups.

The wolf in sheep's clothing: Microtomographic aspects of clinically incipient radiation-related caries

Background Radiation-related caries (RRC) can cause rapid progression, with a high potential for dental destruction affecting mainly cervical and incisal areas. Unlike the injuries that occur in the conventional caries, incipient RRC present in unusual surfaces have difficult diagnosis and classification stages of cavitation. Material and Methods Evaluate the radiographic patterns of demineralization of RRC by using micro-CT. Ten teeth with incipient RRC and 10 teeth with incipient conventional caries (control group) matched by anatomic teeth group and caries affected surfaces were evaluated by X-ray microtomography (micro-CT) Skyscan 1174V2 (50Kv, 1.3 megapixel, Kontich, Belgium). Teeth were placed in a standard position for micro-CT (coronal, transaxial and sagittal sections) during images acquisition. Lesions were classified according to the depth of invasion and relationship with enamel, dentin and pulp. Results RRC samples presented deeper lesions with higher involvement of enamel and dentin. Control group presented focal and superficial lesions with lower involvement of enamel and dentin. Conclusions Incipient RRC present aggressive microtomographic patterns of demineralization when compared to conventional caries, as indicated by deep lesions, regardless of its clinically incipient aspects. Key words:Head and neck cancer, radiotherapy, microtomography, radiation caries.