Nodular Lesions Research Articles

Neurofibromatosis type 1, from gene mutation to clinical presentation

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the followingcriteria: six or more café au lait spots, >2 neurofibromas of any type, freckling in the axillary oringuinal region, optic glioma, a distinctive osseous lesion such as sphenoid dysplasia or thinning oflong bone cortex with or without pseudoarthrosis, and a first degree relative with NF1.We report A 7-year-old male with multiple café au lait spots diagnosed with Neurofibromatosisin Kigali-Rwanda by using next-generation sequencing and copy number variation analysis, thepatient presented with painless nodular skin lesions that first developed 4 years earlier. Skinnodules initially appeared on the anterior chest wall and progressed to the posterior chest wallextending to the axilla region. His medical history and that of his family were unremarkable. To ourknowledge, this is the first case to be diagnosed using this technology; The disease has numerouscomplications. The mutation rate for NF1-gene is high; 50% of all cases of NF1 are from newmutations. The gene protein product - neurofibromin plays an important role in tumor genesis asa tumor-suppressor gene.Combining both clinical findings and molecular genetic evaluation to identify disease-causingmutations is paramount in confirming the diagnosis. Patient care is best done in a multidisciplinarysetting approach for proper patient satisfaction and better prediction of future prognosis.

Abrikossoff’s tumor in a 23-year-old womanunsuccessfully treated with cryosurgery

<b>Introduction:</b> Abrikossoff’s tumor (AT), also known as granular cell tumor or granular cell myoblastoma, is a rare and usually benign neoplasm. It can occur anywhere in the body, but the tongue is the most often reported location.</br></br> <b>Aim:</b> To describe a diagnostically difficult case of Abrikossoff’s tumor.</br></br> <b>Case report:</b> A 23-year-old woman presented primarily to the dermatology clinic due to hidradenitis suppurativa (HS) lesions located in the right groin. During the medical interview, she additionally reported a “tongue scar” that had been present for the past 3 years. The patient was overweight and had 5-year smoking history (5 pack-years). The physical examination revealed a well-circumscribed, painless mucosal nodule of fibrous texture on the right border of the tongue. The nodule on the tongue had been ineffectively treated with cryosurgery. A biopsy was taken from the lesion. The patient was later referred to the otolaryngology unit, where a radical excision and diagnostic imaging were performed.</br></br> <b>Discussion:</b> The histological results from the biopsy were significant for AT, with positive immunohistochemical staining for S-100. While surgical excision remains the best therapeutic approach for AT, cryosurgery seems to be ineffective. It is difficult to distinguish between the benign and malignant forms of AT based solely on a histopathological picture. Therefore, patients with AT should have further diagnostics performed to exclude the potential of a malignant tumor.</br></br> <b>Conclusion:</b> Clinicians should be aware of AT when examining patients with nodular, painless, and well-demarcated mucosal lesions on the tongue. Surgical excision is the best treatment option for AT.

Hepatic and Lung Histiocytosis

A 52-year-old male was admitted for abdominal pain. He had a personal history of tobacco. The physical examination and laboratory tests were normal. A thoraco-abdominal computed tomography scan (CT) reveals a combination of a thin walled pulmonary cystic lesion, and an hepatic hypodense subcapsular lesion (Figure 1). No other abnormalities were showed. The liver magnetic resonance imaging (MRI) showed a normal sized liver with regular contours and multiple nodular lesions (Figure 2). We completed by liver biopsy, that shows infiltration of large cells with irregular nuclei that positively stained to CD1a and S100 (Figure 3).

A peculiar case of pure intraventricular glioblastoma

Glioblastoma (formerly named glioblastoma multiforme) is the most common primary central nervous system tumor, representing 45% of all cases and 15% of all intracranial neoplasms [1]. Its typical radiologic findings and localization make it often a lesion easy to diagnose. In MRI it usually appears as an irregularly shaped cystic lesion with ring contrast enhancement in T1-weighted images, localized in subcortical white matter and deep gray matter nuclei of the cerebral hemispheres. It involves more frequently the frontotemporal region followed by parietal lobes [1]. Few articles in literature described cases of intraventricular glioblastomas, defining those as secondary ventricular tumors because of their probable origin primarily from cerebral tissue with consequent transependymal development [2, 3]. Atypical presentations of these tumors make it more difficult to clearly differentiate them from other lesions more commonly located in the ventricular system. We describe a case with a unique radiological presentation: an intraventricular glioblastoma lying entirely within the ventricular walls, involving all the ventricular system, without mass effect or nodular parenchymal lesions.

P16 Cutaneous renal cell carcinoma metastasis with scrofuloderma as the initial presentation of metastatic renal cell carcinoma: a diagnostic challenge

Abstract Renal cell carcinoma (RCC) with cutaneous metastasis is uncommon and accounts for approximately 3–5% of metastatic RCC, with an unfavourable prognosis. We present an unusual and difficult case of advanced RCC presenting initially with cutaneous metastasis and scrofuloderma, with identical morphology of the lesions. It also highlights the importance of dermatologists in the early diagnosis and management of such cases. A 50-year-old man presented with gradually progressive, multiple erythematous discharging nodules over the right side of his neck of 3 months’ duration. He described a weight loss of 10 kg, intermittent undocumented fever with headache and two episodes of uninvestigated transient haematuria in the last 6 months. He had received multiple courses of antibiotics without any relief. A skin biopsy and immunohistochemistry confirmed cutaneous RCC metastasis with a primary advanced metastatic left RCC, involving the brain as well. A total left nephrectomy was done and he was started on lenvatinib, everolimus and radiotherapy, following which there was suboptimal response and he started developing similar nodular lesions over the left axilla and chest wall, and a puckered crusted plaque over the left lateral abdomen 1 week post treatment. Follow-up at 8 weeks revealed a significant response in the neck lesions; however, the new lesions on the left side did not respond, following which a dermatology consultation was sought again. A skin biopsy from the new lesions confirmed scrofuloderma. Tissue polymerase chain reaction and culture were positive for mycobacterium tuberculosis. He was diagnosed as having scrofuloderma and started on daily isoniazid, rifampicin, ethambutol and pyrazinamide for 2 months followed by daily isoniazid and rifampicin for 4 months. Follow-up at 6 months revealed well-healed lesions, and the systemic symptoms and discharge had abated. The cutaneous metastatic lesions had also healed completely. Here, we present an interesting case of cutaneous RCC metastasis with coexisting scrofuloderma as the initial manifestation of an advanced RCC, posing a diagnostic challenge due to similar morphology. On this background, a recurrence of cutaneous metastasis was the first possibility considered for the new skin lesions. The delay in diagnosis led to significant morbidity in our patient, emphasizing the role of early dermatology consultation in the management of such cases. A high index of suspicion for conditions masquerading as cutaneous metastasis, as well as a lower threshold for skin biopsy, may improve the prognosis dramatically.

BI15 (P16) Cutaneous renal cell carcinoma metastasis with scrofuloderma as the initial presentation of metastatic renal cell carcinoma: a diagnostic challenge

Abstract Renal cell carcinoma (RCC) with cutaneous metastasis is uncommon and accounts for approximately 3–5% of metastatic RCC, with an unfavourable prognosis. We present an unusual and difficult case of advanced RCC presenting initially with cutaneous metastasis and scrofuloderma, with identical morphology of the lesions. It also highlights the importance of dermatologists in the early diagnosis and management of such cases. A 50-year-old man presented with gradually progressive, multiple erythematous discharging nodules over the right side of his neck of 3 months’ duration. He described a weight loss of 10 kg, intermittent undocumented fever with headache and two episodes of uninvestigated transient haematuria in the last 6 months. He had received multiple courses of antibiotics without any relief. A skin biopsy and immunohistochemistry confirmed cutaneous RCC metastasis with a primary advanced metastatic left RCC, involving the brain as well. A total left nephrectomy was done and he was started on lenvatinib, everolimus and radiotherapy, following which there was suboptimal response and he started developing similar nodular lesions over the left axilla and chest wall, and a puckered crusted plaque over the left lateral abdomen 1 week post-treatment. Follow-up at 8 weeks revealed a significant response in the neck lesions; however, the new lesions on the left side did not respond, following which a dermatology consultation was sought again. A skin biopsy from the new lesions confirmed scrofuloderma. Tissue polymerase chain reaction and culture were positive for mycobacterium tuberculosis. He was diagnosed as having scrofuloderma and started on daily isoniazid, rifampicin, ethambutol and pyrazinamide for 2 months followed by daily isoniazid and rifampicin for 4 months. Follow-up at 6 months revealed well-healed lesions, and the systemic symptoms and discharge had abated. The cutaneous metastatic lesions had also healed completely. Here, we present an interesting case of cutaneous RCC metastasis with coexisting scrofuloderma as the initial manifestation of an advanced RCC, posing a diagnostic challenge due to similar morphology. On this background, a recurrence of cutaneous metastasis was the first possibility considered for the new skin lesions. The delay in diagnosis led to significant morbidity in our patient, emphasizing the role of early dermatology consultation in the management of such cases. A high index of suspicion for conditions masquerading as cutaneous metastasis, as well as a lower threshold for skin biopsy, may improve the prognosis dramatically.

PA23 Primary cutaneous Ewing sarcoma in a 14-year-old boy

Abstract A 14-year-old boy presented with a 7-month history of a nodule on the right shoulder. It was initially pink and pea-sized but developed black areas as it grew. It was nontender but bled occasionally. He was otherwise well and took no regular medications. He was originally from the Philippines, having moved to the UK 2 years previously. His mother had a history of breast cancer. This was suspected to be a pyogenic granuloma and treated with a shave biopsy. Histology showed largely patternless sheets of small, blue, round cells, with diffuse and strong membranous reactivity for CD99 on immunohistochemistry. Further molecular analysis revealed EWSR1–FLI1 fusion, confirming Ewing sarcoma. Staging imaging showed no metastatic disease. Following further surgery, he was treated as per the Euro-Ewing protocol with vincristine (V), doxorubicin (D), cyclophosphamide (C), ifosfamide (I), etoposide (E; nine induction cycles: alternate VDC/IE followed by five consolidation cycles IE/VC). Ewing sarcoma most commonly arises from bone and is the second most common bone malignancy in children with an incidence of 2.93 per million. Primary cutaneous Ewing sarcoma is extremely rare, with most of the literature consisting of case reports. A 2015 retrospective review of 56 cases of cutaneous/subcutaneous Ewing sarcoma from the UK and France found that most cases were on the extremities (48%) or trunk (39%). Primary cutaneous Ewing sarcoma tends to occur in late-adolescent or young-adult females, whereas bone disease affects younger patients with a male predominance. Current treatment is similar to treatment for Ewing arising from bone. However, primary cutaneous Ewing sarcoma has a more favourable prognosis, with a 5-year overall survival rate of 93.8%. In summary, cutaneous Ewing sarcoma is a very rare malignancy, particularly in the paediatric population. It is important to consider this in the differential diagnosis of erythematous nodular lesions in children, in order to minimize delays in treatment.

Efficacy of Carbon Peel Laser in Acne Vulgaris in Skin of Color: A Single Center Prospective Study.

Acne vulgaris is a chronic disease of pilosebaceous units that affects approximately 80% of adult population. Despite various treatment modalities being reported, treating acne with minimal side effects is difficult. Specifically, topical carbon suspension combined with QsNdYAG laser treatment (carbon peel laser technique) has gained popularity recently for effective treatment of acne vulgaris. To study the efficacy of carbon peel laser technique in the management of acne vulgaris (Grade II-IV) in skin of color. A prospective observational study was done on 35 patients who presented with acne vulgaris Grade II-IV, who were poorly compliant to treatment with topical/systemic agents owing to side effects or failure of treatment, to meet patient's expectations. The patients were subjected to an initial topical application of carbon suspension (Cosderma Carbon gel) followed by treatment with quality switching neodymium yttrium aluminum garnet (Qs:NdYAG) laser in two modes (quasi long pulsed mode followed by Q switched mode 1064 nm). The treatment consisted of three sittings with intervals of 2 weeks. The patients were asked to avoid use of any topical/systemic medication for acne during this period. Significant reduction of erythematous and nodular acne lesions was noted after three sittings of "carbon peel laser technique". Among 35 patients, 28 (80%) showed >80% improvement and 7 (20%) showed 50%-80% improvement in skin lesions in the form of decrease in the number and size of lesions and extent of inflammation, with no patients nonresponsive to treatment. The postprocedure complications were minimal; 6 (20%) developed erythema, and 1 (3.3%) patient developed mild tolerable pain with no post inflammatory hyper/hypopigmentation. The postprocedure mean ISGA (Investigator Status Global Assessment) was 1.342 as compared with preprocedure mean ISGA of 3.657 with value of P <0.0001. Carbon peel laser technique is an effective method for the management of acne vulgaris in skin of color with minimal side effects and significant results.

Incidental Findings of Duodenal-Type Follicular Lymphoma by Endoscopic Screening: A Case Report

Introduction: Follicular Lymphoma (FL) is a B-cell neoplasm arising from the germinal center. Gastrointestinal FL is a rare case, accounting for less than 4% of all primary lymphoma of the gastrointestinal tract. Duodenal-type Follicular Lymphoma (DTFL) was included in an entity of primary intestinal FL. However, in the 2017 World Health Organization (WHO) Classification, this entity was included in a specific variant called DTFL. In this article, we report a case of DTFL in a 56-year-old man which was incidentally found during upper gastrointestinal endoscopy Case Presentation: : We report a case of incidentally found DTFL in a 56-year-old man during an endoscopy. The endoscopic finding showed a small, hypertrophic, or nodular lesion on part two duodenum. Microscopic evaluation of duodenal mucosa consists of proliferative atypical lymphoid cells arranged in follicular architecture. The lesion was confined to the lamina propria. The atypical lymphoid cells were dominated by monotonous centrocyte-like cells, small-sized, with scant cytoplasm, and cleaved nuclei. There were some scattered larger centroblast-like cells with multiple nucleoli. No mantle zone and tingible body macrophage were found. The immunohistochemical evaluation showed positivity for CD 20, CD 10, Bcl-6, and Bcl-2 in the follicular structure. CD 21 was dominantly stained at the periphery of the follicular structure, and Ki-67 was low. Conclusions: According to clinical data, endoscopic findings, and histopathological and immunohistochemical findings, the patient was diagnosed with DTFL.

WELL-DIFFERENTIATED SQUAMOUS CELL CARCINOMA LOCATED ON THE PALATE: A CASE REPORT

Squamous cell carcinoma (SCC) represents about 90% to 95% of the cases of oral cancer, affecting mostly men, from the 4th decade of life. A 64-year-old man, smoker and alcoholic, was admitted to our clinic with nodular lesions and ulcerated and hardened areas in the mucosa of the hard and soft palate, and pain symptoms, with about 9 months of evolution. Incisional biopsy of the lesion was performed with the hypothesis of carcinoma. Histological analysis revealed the proliferation of islands and cords of malignant squamous epithelial cells, infiltrating the underlying connective tissue, cell and nuclear pleomorphism, areas of extensive keratinization forming multiple scales and keratin pearls, and intense chronic inflammatory infiltrate. The diagnosis was well-differentiated SCC. The patient was referred to oncology services and is undergoing clinical follow-up. Squamous cell carcinoma (SCC) represents about 90% to 95% of the cases of oral cancer, affecting mostly men, from the 4th decade of life. A 64-year-old man, smoker and alcoholic, was admitted to our clinic with nodular lesions and ulcerated and hardened areas in the mucosa of the hard and soft palate, and pain symptoms, with about 9 months of evolution. Incisional biopsy of the lesion was performed with the hypothesis of carcinoma. Histological analysis revealed the proliferation of islands and cords of malignant squamous epithelial cells, infiltrating the underlying connective tissue, cell and nuclear pleomorphism, areas of extensive keratinization forming multiple scales and keratin pearls, and intense chronic inflammatory infiltrate. The diagnosis was well-differentiated SCC. The patient was referred to oncology services and is undergoing clinical follow-up.

GUIDED PUNCTURE AS ANCILLARY TOOL FOR THE DIAGNOSSIS OF MAXILLOFACIAL LYMPHATIC MALFORMATION

Ultrasound-guided puncture is an exam that allows delineation of the lesion margins and extent for better diagnosis and treatment proposal. A 15-year-old boy presented with a painless swelling with 12 months of evolution and progressive enlargement. He reported no history of trauma or recent upper respiratory tract infections, but reported a history of pimple in the region stricken by lesion. On physical examination, a nodular lesion was observed in the right submandibular region, soft in consistency, lobular with ill-defined margins, painless, and freely mobile. An ultrasound-guided aspiration puncture was performed. The punctured material was submitted to the Liquid-based cytology and a diagnosis of lymphatic malformation was made. Ultrasound-guided puncture is an exam that allows delineation of the lesion margins and extent for better diagnosis and treatment proposal. A 15-year-old boy presented with a painless swelling with 12 months of evolution and progressive enlargement. He reported no history of trauma or recent upper respiratory tract infections, but reported a history of pimple in the region stricken by lesion. On physical examination, a nodular lesion was observed in the right submandibular region, soft in consistency, lobular with ill-defined margins, painless, and freely mobile. An ultrasound-guided aspiration puncture was performed. The punctured material was submitted to the Liquid-based cytology and a diagnosis of lymphatic malformation was made.

#3084 EXPLORATION OF PROGNOSTIC FACTORS IN DIABETIC NEPHROPATHY WITH NODULAR LESION USING TRANSCRIPTOME ANALYSIS OF HUMAN KIDNEY TISSUES

Abstract Background and Aims Although the speed of eGFR decline is usually rapid in patients with diabetic nephropathy (DMN) and a nodular lesion (NL), some patients with NL experience a slow eGFR decline. The factors associated with the difference in prognosis remain unknown. In this study, we aimed to explore prognostic factors by performing transcriptome analysis on preserved residual renal biopsy specimens from patients with pathologically diagnosed and prognostically known DMN with nodules. Method Patients who had an annual eGFR drop rate &amp;gt; 5 mL/min/1.73 m2 were defined as rapid decliners (RD) and the others as slow decliners (SD). Twelve patients (RD = 6 and SD = 6) who underwent kidney biopsy, had no other renal comorbidities, and had been followed up for at least one year were included. Total RNA was isolated from renal biopsy tissues in formalin-fixed, paraffin-embedded blocks, and microarray analysis was done. Results At the time of renal biopsy, the eGFR, urine protein, and rate of sclerotic glomeruli were not statistically different between the RD and SD groups, at 49.7±10.1 mL/min/1.73 m2 and 57.5±12.4 mL/min/1.73 m2 (p = 0.258), 7.5±4.2 g/gCre and 4.0±2.7 g/gCre (p = 0.123), and 19.2±13.4% and 25.5±14.4% (p = 0.450), respectively. In microarray analyses (total 58,341 gene probes), genes with little expression (raw signals &amp;lt;50) and with little differences between RD and SD (processed signals &amp;lt;0.3) were excluded, leaving 14,227 genes for further analysis. A total of 1,496 differentially expressed genes (DEGs) were selected with p-values &amp;lt;0.05 and fold change ≥2 between the RD and SD group for further bioinformatic analysis. Using the Ingenuity Pathway Analysis system, 15 canonical pathways and 9 diseases or functions annotations were found to be enriched. In addition, upstream regulator analysis identified 73 upstream regulators. Among them, only two regulators, CBX5 and CCN5, showed p &amp;lt;0.05 and absolute z-score &amp;gt; = 2 as activated and inhibited regulators, respectively, in the RD group. We next performed regulator effects analysis, indicating one regulator network which identified the key upstream regulator CCN5. The regulator network also showed a small number of genes involved in the viral infection, which included CDH1, CD24, and ESR1. Additionally, IPA showed 25 interaction networks ranging from 11 to 38. The fifth-ranked network was associated with Cancer, Organismal Injury, and Abnormalities (score = 32), in which CD24 and ESR1 were included. We, therefore, performed qRT-PCR to compare the expression levels of CDH1, CD24, and ESR1 in the RD group with those in the SD group. The expression levels of CD24 and ESR1 in the RD group were downregulated compared with those in the SD group (p = 0.004 and p = 0.022, respectively) although there was little difference in the level of CDH1 between them (p = 0.638). Conclusion Transcriptomic analysis using renal biopsied tissue revealed that ESR1 and CD24 might be candidates for renoprotective factors in DMN with NL.

MUCOEPIDERMOID CARCINOMA ON THE FLOOR OF THE MOUTH: A CASE REPORT

A 60-year-old man sought out our dental service with a lesion in the oral mucosa. The intraoral examination showed a nodular, painless, normochromic, and non-bleeding lesion with approximately 30 days of evolution, affecting the right region of the mouth floor with a clinical hypothesis of adenoma. The biopsy was performed and the histopathological analysis revealed a malignant neoplastic lesion of the salivary gland characterized by the proliferation of mucous cells, epidermoids, and intermediate cells arranged either in sheets or in islands, forming cystic spaces with eosinophilic content inside, which were often covered by basaloid mucous cells. The diagnosis of mucoepidermoid carcinoma was established, and the patient was referred for treatment at the oncology referral center. A 60-year-old man sought out our dental service with a lesion in the oral mucosa. The intraoral examination showed a nodular, painless, normochromic, and non-bleeding lesion with approximately 30 days of evolution, affecting the right region of the mouth floor with a clinical hypothesis of adenoma. The biopsy was performed and the histopathological analysis revealed a malignant neoplastic lesion of the salivary gland characterized by the proliferation of mucous cells, epidermoids, and intermediate cells arranged either in sheets or in islands, forming cystic spaces with eosinophilic content inside, which were often covered by basaloid mucous cells. The diagnosis of mucoepidermoid carcinoma was established, and the patient was referred for treatment at the oncology referral center.

ORAL FIBROLIPOMA IN THE BUCCAL MUCOSA

A 71-year-old female patient, totally edentulous, presented an asymptomatic lesion in the right buccal mucosa, close to the mandibular branch. Clinically the lesion showed a pedunculated nodule with a smooth surface, normal coloring, softened consistency, measuring approximately 2cm x 2cm. The patient reported a slow growth, with a 4-year evolution. No ulcerations were observed in the region. According to these characteristics, the clinical diagnostic hypotheses were inflammatory fibrous hyperplasia, fibroma, or lipoma. Therefore, the tumor was excised under local anesthesia, and the specimen was submitted to histopathological analysis. Microscopically, we observed a nodular limited lesion with dispersed mature adipocyte proliferation in a dense collagenous fibrous stroma, and lined with hyperplastic and hyperkeratotic squamous epithelium. Given these characteristics, the lesion was diagnosed as fibrolipoma, a histopathological variant of lipoma that is rare in the buccal mucosa. The treatment was concluded with surgical excision and, currently, the patient has shown no recurrence. A 71-year-old female patient, totally edentulous, presented an asymptomatic lesion in the right buccal mucosa, close to the mandibular branch. Clinically the lesion showed a pedunculated nodule with a smooth surface, normal coloring, softened consistency, measuring approximately 2cm x 2cm. The patient reported a slow growth, with a 4-year evolution. No ulcerations were observed in the region. According to these characteristics, the clinical diagnostic hypotheses were inflammatory fibrous hyperplasia, fibroma, or lipoma. Therefore, the tumor was excised under local anesthesia, and the specimen was submitted to histopathological analysis. Microscopically, we observed a nodular limited lesion with dispersed mature adipocyte proliferation in a dense collagenous fibrous stroma, and lined with hyperplastic and hyperkeratotic squamous epithelium. Given these characteristics, the lesion was diagnosed as fibrolipoma, a histopathological variant of lipoma that is rare in the buccal mucosa. The treatment was concluded with surgical excision and, currently, the patient has shown no recurrence.

SCHWANNOMA IN THE LOWER LIP: A CASE REPORT

Schwannoma is a benign tumor derived from Schwann cells. About 25% of all schwannomas are diagnosed in the head and neck region, but only 1% in the oral cavity. The intraoral lesions show a predilection for the tongue, followed by palate, buccal mucosa, and lip. A 26-year-old male was referred, complaining of a "cyst on the lower lip" which began 5 years ago. Intraoral examination showed a painless nodule, normal color, smooth surface, and fibroelastic consistency, located on the lower lip. An excisional biopsy was performed, and histopathological examination showed a well-circumscribed, encapsulated tumor with a predominantly typical Antoni A pattern, present throughout the tumor. Immunohistochemical analysis showed positive results for S100, CD56, and CD34. The diagnosis of Schwannoma was established. The patient is undergoing follow-up, with no signs of lesion recurrence after 1 year. Schwannoma should be considered in the differential diagnosis of nodular lesions on the lip. Schwannoma is a benign tumor derived from Schwann cells. About 25% of all schwannomas are diagnosed in the head and neck region, but only 1% in the oral cavity. The intraoral lesions show a predilection for the tongue, followed by palate, buccal mucosa, and lip. A 26-year-old male was referred, complaining of a "cyst on the lower lip" which began 5 years ago. Intraoral examination showed a painless nodule, normal color, smooth surface, and fibroelastic consistency, located on the lower lip. An excisional biopsy was performed, and histopathological examination showed a well-circumscribed, encapsulated tumor with a predominantly typical Antoni A pattern, present throughout the tumor. Immunohistochemical analysis showed positive results for S100, CD56, and CD34. The diagnosis of Schwannoma was established. The patient is undergoing follow-up, with no signs of lesion recurrence after 1 year. Schwannoma should be considered in the differential diagnosis of nodular lesions on the lip.

GRANULAR CELL TUMOR IN AN UNUSUAL LOCATION AFFECTING A PEDIATRIC PATIENT: CASE REPORT

Granular cell tumor (GCT) is a rare benign soft-tissue neoplasm of Schwann-cell origin. It most often affects the tongue, followed by floor of the mouth and buccal mucosa, mainly in adult women. A 13-year-old male patient was referred for evaluation of a lesion on the upper lip. Intraoral examination showed a painless sessile nodule, normal color, measuring 1.0 × 0.5 cm, with several months of evolution. Diagnostic hypotheses included neurofibroma, pleomorphic adenoma, and canalicular adenoma. An excisional biopsy was performed, and histopathologic analysis revealed a well-defined proliferation of eosinophilic granular cells, with no typical pseudo-epitheliomatous hyperplasia, and perineural involvement. Immunohistochemistry showed positivity for vimentin, S100, CD56, and CD68. The diagnosis was GCT. After one year of follow-up, the patient showed no signs of recurrence or alterations. GCT is extremely rare, affecting the upper lip in pediatric patients; therefore, it should be considered in the differential diagnosis of lip nodular lesions. Granular cell tumor (GCT) is a rare benign soft-tissue neoplasm of Schwann-cell origin. It most often affects the tongue, followed by floor of the mouth and buccal mucosa, mainly in adult women. A 13-year-old male patient was referred for evaluation of a lesion on the upper lip. Intraoral examination showed a painless sessile nodule, normal color, measuring 1.0 × 0.5 cm, with several months of evolution. Diagnostic hypotheses included neurofibroma, pleomorphic adenoma, and canalicular adenoma. An excisional biopsy was performed, and histopathologic analysis revealed a well-defined proliferation of eosinophilic granular cells, with no typical pseudo-epitheliomatous hyperplasia, and perineural involvement. Immunohistochemistry showed positivity for vimentin, S100, CD56, and CD68. The diagnosis was GCT. After one year of follow-up, the patient showed no signs of recurrence or alterations. GCT is extremely rare, affecting the upper lip in pediatric patients; therefore, it should be considered in the differential diagnosis of lip nodular lesions.

Case Report: Schwannoma of the tongue

Schwannomas are benign neoplasms originating from Schwann cells of the peripheral nerve sheath. Intraoral lesions are uncommon. A 58-year-old female patient complained of discomfort at the apex of the tongue. Clinical examination revealed a fibrous, lobulated, delimited, and normochromatic nodular lesion, measuring 3 centimeters in diameter, with 10 years of evolution. Diagnostic hypotheses included schwannoma and neurofibroma, thus, an excisional biopsy was performed. Microscopic analysis showed a proliferation of fusiform cells organized in a more cellularized area, with a palisade arrangement around acellular areas, and a less cellularized area, with dispersed cells, intermingled with loose connective tissue. The neoplastic cells were positive for immunohistochemical reactions for S100, confirming the diagnosis of schwannoma. The patient remained without symptoms and with no signs of recurrence after 18 months of follow-up. The correlation of clinical signs and symptoms is essential for the elaboration of the differential diagnosis, treatment planning, and diagnosis confirmation. Schwannomas are benign neoplasms originating from Schwann cells of the peripheral nerve sheath. Intraoral lesions are uncommon. A 58-year-old female patient complained of discomfort at the apex of the tongue. Clinical examination revealed a fibrous, lobulated, delimited, and normochromatic nodular lesion, measuring 3 centimeters in diameter, with 10 years of evolution. Diagnostic hypotheses included schwannoma and neurofibroma, thus, an excisional biopsy was performed. Microscopic analysis showed a proliferation of fusiform cells organized in a more cellularized area, with a palisade arrangement around acellular areas, and a less cellularized area, with dispersed cells, intermingled with loose connective tissue. The neoplastic cells were positive for immunohistochemical reactions for S100, confirming the diagnosis of schwannoma. The patient remained without symptoms and with no signs of recurrence after 18 months of follow-up. The correlation of clinical signs and symptoms is essential for the elaboration of the differential diagnosis, treatment planning, and diagnosis confirmation.

HISTOPLASMOSIS IN A MAN WITH AIDS: CASE REPORT

Histoplasmosis is a systemic infectious disease caused by Histoplasma capsulatum. Patient, male, 40 years old, melanoderma, with AIDS, referred from a Reference Center for Tropical Diseases for stomatological care, complaining of a "tongue lesion". Nothing noteworthy was seen in the extra-oral examination. Intra-oral, a nodular lesion disseminated in a red tongue, papillary and ulcerated surface with sessile base. The clinical diagnosis was Histoplasmosis and Paracoccidioidomycosis. An incisional biopsy was performed and the histopathological sections were stained with hematoxylin and eosin (HE) revealing a granulomatous inflammatory process associated with pseudoepitheliomatous hyperplasia compatible with histoplasmosis. Positive PAS reaction and Grocott staining; and negative in the Ziehl-Neelsen staining. The patient died before starting the treatment. This case reinforces the importance of the stomatologist and oral pathologist in the elucidation of cases of systemic diseases when it is shown exclusively in the mouth and the diagnostic challenge. Histoplasmosis is a systemic infectious disease caused by Histoplasma capsulatum. Patient, male, 40 years old, melanoderma, with AIDS, referred from a Reference Center for Tropical Diseases for stomatological care, complaining of a "tongue lesion". Nothing noteworthy was seen in the extra-oral examination. Intra-oral, a nodular lesion disseminated in a red tongue, papillary and ulcerated surface with sessile base. The clinical diagnosis was Histoplasmosis and Paracoccidioidomycosis. An incisional biopsy was performed and the histopathological sections were stained with hematoxylin and eosin (HE) revealing a granulomatous inflammatory process associated with pseudoepitheliomatous hyperplasia compatible with histoplasmosis. Positive PAS reaction and Grocott staining; and negative in the Ziehl-Neelsen staining. The patient died before starting the treatment. This case reinforces the importance of the stomatologist and oral pathologist in the elucidation of cases of systemic diseases when it is shown exclusively in the mouth and the diagnostic challenge.

LABIAL SQUAMOUS CELL CARCINOMA IN A YOUNG PATIENT

A 27-year-old, leukoderma male patient, sought out dental care complaining of burning and a lesion on the lower lip. The patient had no risk factors and presented a history of trauma in the region. Intraoral examination identified a nodular lesion in the lower lip, firm, with ulcered surface, measuring about 1.0 cm, with an evolution of approximately 2 months. The diagnostic hypothesis was mucocele. An excisional biopsy was performed, and the result of the histopathological analysis was moderately differentiated squamous cell carcinoma (SCC). The patient underwent surgical treatment with no need for adjuvant treatment. SCC is more prevalent in males, with a peak incidence between 50 and 70 years of age. The relevance of the case is related to the patient´s early age and the importance of the histopathological analysis to confirm the diagnosis to establish adequate treatment. A 27-year-old, leukoderma male patient, sought out dental care complaining of burning and a lesion on the lower lip. The patient had no risk factors and presented a history of trauma in the region. Intraoral examination identified a nodular lesion in the lower lip, firm, with ulcered surface, measuring about 1.0 cm, with an evolution of approximately 2 months. The diagnostic hypothesis was mucocele. An excisional biopsy was performed, and the result of the histopathological analysis was moderately differentiated squamous cell carcinoma (SCC). The patient underwent surgical treatment with no need for adjuvant treatment. SCC is more prevalent in males, with a peak incidence between 50 and 70 years of age. The relevance of the case is related to the patient´s early age and the importance of the histopathological analysis to confirm the diagnosis to establish adequate treatment.

LOW-GRADE MYOFIBROBLASTIC SARCOMA OF THE ORAL CAVITY

Low-grade myofibroblastic sarcoma (LGMS) represents a distinct atypical myofibroblastic tumor of deep soft tissues, with a head and neck predilection. It has a variety of appearances, from fasciitis-like or fibromatosis-like to fibrosarcoma-like. Here, a series of four cases from two different institutions is shown, represented by 2 men and 2 women presenting a nodular lesion, with equal distribution in maxilla and mandibula. Microscopically, all cases showed neoplasms formed by oval to spindle cells in a fibrous stroma with myxoid and dense areas, some atypical mitoses, and prominent nucleoli. These findings suggested a mesenchymal tumor. An immunohistochemical panel was performed, which showed positivity for smooth muscle actin (3 of 4 cases), HHF35 (2 of 4 cases), β-catenin (3 of 3 cases), calponin (2 of 4 cases), and Ki-67 (range 5-40%). H-Caldesmon was negative for all cases, demonstrating myofibroblastic and smooth muscle differentiation. The diagnosis of LGMS was confirmed in all cases. Low-grade myofibroblastic sarcoma (LGMS) represents a distinct atypical myofibroblastic tumor of deep soft tissues, with a head and neck predilection. It has a variety of appearances, from fasciitis-like or fibromatosis-like to fibrosarcoma-like. Here, a series of four cases from two different institutions is shown, represented by 2 men and 2 women presenting a nodular lesion, with equal distribution in maxilla and mandibula. Microscopically, all cases showed neoplasms formed by oval to spindle cells in a fibrous stroma with myxoid and dense areas, some atypical mitoses, and prominent nucleoli. These findings suggested a mesenchymal tumor. An immunohistochemical panel was performed, which showed positivity for smooth muscle actin (3 of 4 cases), HHF35 (2 of 4 cases), β-catenin (3 of 3 cases), calponin (2 of 4 cases), and Ki-67 (range 5-40%). H-Caldesmon was negative for all cases, demonstrating myofibroblastic and smooth muscle differentiation. The diagnosis of LGMS was confirmed in all cases.