Conservative management of multiple odontogenic keratocysts in a child with nevoid basal cell carcinoma syndrome: A case report.

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant multisystemic disorder characterized by the presence of multiple odontogenic keratocysts (OKC), which are a hallmark feature of the syndrome. The treatment of these OKC poses challenges due to their high recurrence rates and the myriad of management options available. CASE REPORT: We describe here a case of NBCCS diagnosed in an 11-year-old girl who presented with multiple OKC in the jaws. Chest and cranial radiographs showed no abnormalities in the ribs and the cerebral falx, respectively. Cephalometric analysis indicated mandibular retrusion, a skeletal class II relationship, and a convex profile. The treatment approach involved a personalized strategy tailored for each cyst, comprising marsupialization followed by enucleation. This approach aimed to minimize surgical trauma and to reduce the risk of recurrence. The patient underwent regular follow-up appointments, demonstrating successful outcomes with no signs of recurrence or de novo OKC observed over a 32-month period. CONCLUSION: Clinicians should consider lesion characteristics and patient cooperation when determining treatment strategies for the optimization of outcomes for children and adolescents with NBCCS and multiple OKC.

Congenital Juvenile Xanthogranuloma in the Perioral Region: A Case Image.

Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis in childhood. It often presents with cutaneous involvement and exhibits a predilection for the head and neck region. This article illustrates a case of congenital JXG in a 5-month-old boy, characterized by a solitary, well-circumscribed nodule above the left upper lip. Histopathologically, the lesion exhibited histiocytes with eosinophilic cytoplasm and Touton giant cells. Immunohistochemistry revealed histiocytes positive for CD68 and Factor XIIIa, while negative for S-100 protein. Clinicians should become familiar with the broad clinical spectrum of cutaneous JXG, particularly its congenital presentation, in order to ensure timely and accurate management.

Oral lesions of systemic lupus erythematosus: A collaborative Latin American study.

BACKGROUND: Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease that may affect the oral mucosa. The variable spectrum of oral lesions observed in SLE can pose challenges in diagnosis, particularly when the lesions occur in isolation. The aim of this study was to describe the oral lesions occurring in patients with SLE from Latin America. METHODS: This collaborative record-based study involving 11 oral and maxillofacial pathology and medicine services across Venezuela, Argentina, Chile, Brazil, and Mexico describes the clinicopathological profile of SLE-related oral lesions. RESULTS: Seventy patients with SLE and oral lesions were included in the study. The majority were females (75.7%; female/male ratio: 3.1:1) and white (62.1%), with a mean age of 38.4 years (range: 11-77 years). The most common site of oral lesions was the hard/soft palate (32.0%). Clinically, oral lesions predominantly presented as ulcers (26.6%), erosions (26.6%), and white lesions (23.4%). Isolated oral lesions occurred in 65.2% of individuals, while cutaneous manifestations occurred in 80.3%. The main clinical diagnostic hypothesis in 71.4% of cases was an immune-mediated disease. Oral biopsies followed by histopathological analysis were performed in 50 cases. CONCLUSION: Oral lesions of SLE exhibit a variety of clinical and histopathological features. A key point in diagnosis is that unusual oral changes without an obvious local cause may indicate a possible systemic condition presenting with oral lesions. A multidisciplinary approach, which includes regular oral examination, is warranted to identify oral lesions and provide treatment.

Melanotic Neuroectodermal Tumor of Infancy: A Case Image.

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare benign neoplasm that can be mistaken for malignancies due to its unfamiliarity among clinicians and aggressive clinical appearance. We herein contributed by reporting an additional case of MNTI characterized by an extensive extraoral protrusion in a 2-month-old infant. The lesion involved the anterior maxilla, cheek, and infraorbital region, resulting the displacement of the nose to the contralateral side, and measuring approximately 10 cm in size. Surgical resection of the lesion was performed. After a 6-month follow-up, the patient has shown no evidence of recurrence. The rapid growth and aggressive behavior of MNTI emphasize the importance of an early diagnosis and prompt intervention in order to achieve favorable outcomes.

BubR1 and cyclin B1 immunoexpression in pleomorphic adenoma and polymorphous adenocarcinoma of minor salivary glands.

The immunoexpression of BubR1 and cyclin B1 in pleomorphic adenoma (PA) and polymorphic adenocarcinoma (PAC) in minor salivary glands is poorly studied. Thus, a retrospective and observational study was performed to provide a better understanding of the role and immunopositivity patterns of these proteins in these lesions. Sixteen cases of PA and 16 cases of PAC were selected. Parenchyma cells were submitted to quantitative immunohistochemical analysis through the labeling index. Cytoplasmic immunoexpression of BubR1 was observed in neoplastic cells from all analyzed PA and PAC cases. All PA cases and 93.7% of PAC exhibited nuclear immunoexpression of BubR1. Higher cytoplasmic and nuclear immunoexpression of BubR1 was observed in PAC (p = 0.001 and p = 0.122, respectively). Cytoplasmic immunoexpression of cyclin B1 was observed in all cases of PA and PAC, with a higher labeling index in the latter (p < 0.001). There was a significant positive correlation between nuclear and cytoplasmic BubR1 immunoexpressions (p < 0.001) in PA and a significant negative correlation between BubR1 and cyclin B1 cytoplasmic immunoexpressions (p = 0.014) in PAC. The higher cytoplasmic and nuclear immunoexpression of BubR1 in PACs suggests the continuous maintenance of neoplastic cells in the cell cycle and migration. Higher immunoexpression of cyclin B1 supports this lesion's enhanced proliferative and migration ability.

Clinicopathological Features of Metastasis to the Oral and Maxillofacial Region-Multicenter Study.

BACKGROUND: This study aimed to investigate the clinicopathological features of metastases in the oral and maxillofacial regions. METHODS: In this retrospective study, biopsy records were obtained from referral centers for oral and maxillofacial diagnosis in Brazil, Guatemala, Mexico, and South Africa. RESULTS: A total of 120 cases were evaluated. Of these, 53.78% affected female patients, with a mean age of 57.64 years. Intraosseous lesions were more frequent, particularly in the posterior region of the mandible (49.58%). Clinically, most cases presented with symptomatic swelling, with an average evolution time of 25 months. The clinical diagnostic hypothesis in most instances was that of a malignant lesion. Breast cancer was the most common primary tumor location in females, while lung origin was most common in males. In most cases, the primary cancer was an adenocarcinoma (44.73%). The follow-up period was available for 29 cases, and out of these, 20 had died due to the disease. CONCLUSION: Although this is a rare condition, clinicians should be aware that any oral lesions have the possibility of being metastatic, particularly in individuals with a previous history of cancer. The findings from this study could assist clinicians in prompt diagnosing these lesions and subsequent conducting oncologic assessments and treatment.

Orofacial Manifestations in a Middle-Aged Woman with Cowden Syndrome: A Case Image.

A 56-year-old Brazilian woman sought dental care, presenting with multiple asymptomatic papillomatous lesions with a coalescent pattern and intermingled cobblestone-like clefts along the alveolar ridge and marginal and attached gingivae. Multiple whitish papules were also observed on the face, neck, and limbs. Incisional biopsies of these lesions were performed. Microscopically, the skin lesion revealed epithelial clear cells and intraepithelial keratinization with areas of orthokeratosis, while the gingival lesions showed a parakeratinized stratified squamous epithelium with collagenous connective tissue. These features were consistent with those of a trichilemmoma and fibroepithelial hyperplasia, respectively. This article illustrates a case of Cowden syndrome (CS), a rare multisystem genetic condition in which both cutaneous and mucosal tissues were affected. Fewer than 40 cases of CS with oral involvement affecting middle-aged adults have been documented hitherto.

Oral solitary fibrous tumors: A collaborative clinicopathologic study of 19 cases.

OBJECTIVE: To report the clinicopathologic features of 19 oral solitary fibrous tumors (SFTs). METHODS: Clinical data were collected from the records of seven pathology services. All cases were re-evaluated by HE staining and confirmed by immunohistochemistry. RESULTS: The series comprised 11 females (57.9%) and 8 males (42.1%), with a mean age of 47.3 ± 14.7 years (range: 22-71 years) and a 1.3:1 female-to-male ratio. Most tumors affected the buccal mucosa (n = 7; 36.8%) and presented clinically as an asymptomatic solitary submucosal well-circumscribed nodule with coloration similar to the oral mucosa. Morphologically, most SFTs (n = 10; 52.6%) exhibited a classic hybrid pattern characterized by a well-circumscribed proliferation of densely cellular areas alternating with hypocellular areas in a variably collagenous vascular stroma. Remnants of accessory salivary glands were observed in two cases (n = 2; 10.5%). All tumors were positive for STAT6 and CD34 (n = 19; 100%). Outcome information was available from 6 patients (31.6%), with clinical follow-up ranging from 6 to 24 months (mean ± SD, 9.5 ± 6.8 months), and none developed local recurrence. CONCLUSIONS: Oral SFTs are rare and often clinically misdiagnosed. Pathologists should consider SFT in the differential diagnosis of oral spindle cell tumors. Accurate diagnosis requires careful morphological evaluation supported by immunohistochemical analysis.

Squamous Odontogenic Tumor in the Posterior Region of Maxilla.

Squamous odontogenic tumor (SOT) is a rare benign but locally infiltrative tumor often misdiagnosed as other entities, such as ameloblastoma and squamous cell carcinoma, due to overlapping morphological findings. We document here the clinicopathological and imaging findings of an aggressive intraosseous SOT in the posterior left region of the maxilla in a 25-year-old male patient. On intraoral examination, the tumor extended from the region of the left lateral incisor to the upper left premolar and was covered by reddish mucosa, with discrete areas of ulceration. Imaging exams revealed an osteolytic lesion causing thinning, erosion, and buccal and lingual cortical plate perforation associated with an impacted canine. Microscopically, the tumor showed a proliferation of islands of well-differentiated squamous epithelium in a variably collagenized background. The peripheral cells of the islands were flat or slightly cuboidal and did not exhibit nuclei with peripheral palisade and reverse polarization. The diagnosis of SOT was rendered. The patient underwent surgical resection and has been under clinical follow-up for approximately 12 months with no signs of recurrence. A careful morphological evaluation is essential to avoid misdiagnosis and ensure a satisfactory treatment approach.

Adverse Reactions Associated with Dermal Fillers in the Oral and Maxillofacial Region: A Venezuelan Experience.

BACKGROUND: Dermal facial fillers are increasingly popular. Published reports on the clinical and histopathologic characteristics related to adverse reactions to dermal fillers in the facial region have been relatively well documented. This study adds to the literature on adverse reactions to injected filler in the oral and maxillofacial region in a South American population. METHODS: A retrospective, descriptive cross-sectional study (2019-2020) was performed. The study population was a dermatology service in Venezuela. Clinical and histopathologic features of patients with adverse effects were documented. RESULTS: A total of 35 cases of adverse reactions associated with cosmetic filler procedures were diagnosed during the analyzed period; of these, six cases (17.1%) involved the oral and maxillofacial region. All cases occurred in women. The mean age at diagnosis was 59.3 years (58-73). In three cases, dermal fillers were used in different locations on the face, while three involved the lips. Five patients exhibited adverse reactions to lip filler. All six cases were histopathologically diagnosed as foreign body reactions to injected material. Four and two cases revealed microscopic features compatible with hyaluronic acid and polymethylmethacrylate, respectively. CONCLUSION: Reflecting the dramatic increase in cosmetic procedures with soft tissue fillers, this study contributed by reporting six cases of foreign body reaction involving the oral and maxillofacial region, confirmed with biopsy and histopathology.

Clinical diagnostic approach for oral lymphomas: a multi-institutional, observational study based on 107 cases.

OBJECTIVE: To evaluate oral lymphomas' clinical manifestations and investigate whether clinical features are associated with lymphoma subtypes. STUDY DESIGN: Oral lymphomas with at least 1 representative clinical image were evaluated. They were classified according to their microscopic grade (high vs low), predominant cell size (small vs medium/large), and cellular lineage (B cell vs T cell). Clinical images were described according to tumor location, number, swelling, ulcer, necrosis, telangiectasia, predominant color, and lobulation. Lymphomas affecting the palate were compared with salivary gland tumors (SGTs) affecting this location. RESULTS: Data from 107 cases were included. High-grade subtypes (80.4%), with medium/large-sized cells (52.3%), and diagnosed as diffuse large B cell lymphomas (29%) predominated. High-grade lymphomas often presented as painful, ulcerative, and osteolytic diseases (P < .05). Tumors predominantly composed of medium/large-sized cells were associated with painful lesions, ulcerated, with necrosis and bone destruction (P < .05). When only palate tumors were considered, multiple and bilateral lesions, the presence of pain, ulceration, and necrosis were significantly more associated with a diagnosis of lymphoma than SGT (P < .001). CONCLUSION: High-grade oral lymphomas are more associated with destructive presentation than low-grade subtypes, and bilateral lesions in the palate are more associated with a lymphoma diagnosis than SGT.

Congenital Melanotic Macule of the Tongue: Report of Two Cases and Literature Review.

BACKGROUND: Congenital melanotic macule of the tongue (CMMT) has been described as a distinct entity, despite its unknown etiology. However, the diagnosis and management of affected newborns may challenge clinicians and pediatric dentists. METHODS: We document here the clinicopathological findings of two additional cases of CMMT. A literature review of CMMT reports identified across PubMed, Web of Science, Embase, and Scopus was also conducted. RESULTS: The patients, 2- and 4 month-old Venezuelan boys, respectively, presented at birth with a single or multiple dark-brown-pigmented macule exclusively on the dorsum of the tongue. Histopathological features revealed increased melanin pigmentation in the basal epithelial layer with overlying hyperkeratosis and pigment-laden subepithelial macrophages with normal morphological appearance. Nine studies comprising 17 cases of CMMT have been described hitherto. Most cases were from the USA and France (n = 6 each). Twelve (70.6%) patients were males, eight (50%) were white, and median age was 2.7 months. CMMT presented as brownish to black, solitary or multiple pigmentations located in the right or left region of the dorsum of the tongue, ranging in size from 3.0 to 30.0 mm. CONCLUSION: An important feature for the diagnosis of CMMT is the information about the manifestation at birth and consequent proportional growth. This report intends to draw the attention of pediatricians and dentists to this apparently underdiagnosed condition for decision-making and management of affected newborns.

Gingival rhabdomyosarcoma mimicking a non-neoplastic proliferative lesion: A diagnostic challenge.

Rhabdomyosarcoma (RMS) is a soft tissue sarcoma that develops from skeletal striated muscle cells. RMSs are exceedingly rare in the oral cavity, particularly in the gingiva. Herein, we reported the clinicopathological and immunohistochemical features of a rare case of RMS in a 30-year-old female presenting clinically as a painful polypoid nodule on the mandibular gingiva. Microscopically, the tumor showed atypical spindle cells with elongated nuclei and eosinophilic cytoplasm arranged in a fascicular pattern. In focal areas, the tumor cells exhibited rhabdomyoblastic differentiation. Immunohistochemistry showed strong positivity for desmin, myogenin (scattered cells), and MyoD1. The patient underwent surgical resection followed by postoperative complementary radio- and chemotherapy. However, the patient had a local recurrence seven months after the initial treatment. She was submitted to a total mandibulectomy associated with adjuvant radiotherapy. However, she died two months after reoperation due to complications secondary to radiation therapy. Because of the rarity in the oral cavity and non-specific signs and symptoms, the clinical diagnosis of RMS is difficult and often overlooked. Therefore, careful histopathological and immunohistochemistry analysis of these tumors is essential to correct diagnosis. Early surgical excision with tumor-free margins and prolonged follow-up are strongly recommended.

Lingual metastasis as the first presentation of clear cell renal cell carcinoma: Report of a rare case clinically mimicking a benign lesion.

Metastases in the oral cavity are rare and frequently associated with widespread disease and poor prognosis. Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC), known for its propensity for metastatic spread. The diagnosis of oral metastases from ccRCC is challenging, especially when the patient has no history of primary neoplasm. Herein, we reported a rare metastatic ccRCC in a 58-year-old female presenting clinically as a painless nodule on the tongue mimicking a benign lesion. Microscopically, the tumor showed a proliferation of clear cells organized in nests with a predominantly lobular arrangement. The dense connective tissue stroma was highly vascularized, exhibiting some areas with a hyalinized aspect. Immunohistochemistry showed focal positivity for pan-cytokeratin AE1/AE3 and strong positivity for CK8, CK18, epithelial membrane antigen (EMA), vimentin, and CD10. S-100 protein, HMB-45, CK7, and CK20 were negative. The definitive diagnosis was metastatic ccRCC. The treatment was initiated with sunitinib. However, the disease progressed, and the patient was submitted to palliative care. Despite the low survival rate of patients with metastases, the clinician's experience in identifying an oral metastatic lesion may reveal undiagnosed primary tumors and provide better prognosis and survival rates.

Mucosal Leishmaniasis of the lip: Report of an Exuberant case in a Young man.

BACKGROUND: Leishmaniasis is a tropical disease caused by protozoan parasites of the genus Leishmania. Mucosal leishmaniasis has been described as secondary to the cutaneous form; however, isolated mucosal involvement can also occur. Specifically, mucosal leishmaniasis of the lip is poorly described and its diagnosis challenges clinicians. METHODS: We herein report a case of mucosal leishmaniasis affecting the lower lip without cutaneous involvement in a 20-year-old Venezuelan man. The patient had no relevant past medical history. Clinically, a mass-like lesion with ulcerations and crusts was observed. RESULTS: Microscopically, the lesion was composed of granulomatous inflammation along with macrophages containing intracytoplasmic inclusions similar to round-shaped Leishmania. The species Leishmania (Viannia) braziliensis was confirmed. Treatment with meglumine antimonate was effective. The lesion healed satisfactorily, and no side effects or recurrences were observed. CONCLUSION: Clinicians should be aware of isolated forms of mucosal leishmaniasis of the lip, even in cases where the cutaneous lesion is undetected or clinically manifests as self-limiting. Knowing the endemic areas in the scenario of the dynamics of the ecoepidemiology of leishmaniasis is also essential for surveillance and counselling of the population.

Lymphomas Affecting the Sublingual Glands: A Clinicopathological Study.

BACKGROUND: Lymphomas affecting the sublingual glands are extremely rare and very few case reports are currently available. Therefore, the aim of the current study is to describe the clinicopathological features of a series of lymphomas involving the sublingual glands. METHODS: Cases diagnosed in four pathology services were assessed and the formalin-fixed paraffin-embedded tissue blocks were retrieved for diagnosis confirmation. Clinical data were obtained from patients' medical files. RESULTS: We obtained seven cases of lymphomas in the sublingual glands, representing two follicular lymphomas, two diffuse large B cell lymphomas not otherwise specified (DLBCL NOS), two extranodal marginal zone B cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphomas) and one mantle cell lymphoma (MCL). In all cases the tumor cells infiltrated the glandular parenchyma, although in two of them the neoplastic cells were located more superficially and permeated the glandular acini and ducts. Clinically, the tumors presented as asymptomatic nodules and two patients (affected by DLBCL NOS and MCL) died, while the other five patients remained alive at last follow-up. CONCLUSION: Lymphomas affecting the sublingual glands are usually of the mature B cell lineage, often represent low-grade subtypes and may clinically resemble other more common lesions in the floor of the mouth like salivary gland tumors.

Psammomatoid juvenile ossifying fibroma of frontal sinus - surgical and reconstructive approach.

Psammomatoid juvenile ossifying fibroma (PJOF) is a benign fibro-osseous lesion that mainly affects the paranasal sinuses and periorbital bones. It may cause significant esthetic and functional impairment. Herein, we describe the diagnosis and surgical approach of an extensive PJOF arising in the frontal sinus of a young male. After complete lesion removal and histopathological confirmation, the bone defect was repaired with a customized polymethylmethacrylate implant. PJOF may present aggressive clinical behavior. The excision of extensive PJOF in the orbitofrontal area can result in significant esthetic defects. Polymethacrylate implants restore functionally and esthetically the involved area.