Search Results (63)

Objectives: Sinonasal inverted papilloma (SNIP) is a rare benign tumor that has potential for malignant transformation, usually into squamous cell carcinoma (SCC). The pre-operative differentiation between SNIP and SNIP-SCC is essential in determining the therapeutic strategy, but it is a challenge, as biopsies may fail to recognize the malignant part of the tumor. Further, a SNIP can also be locally aggressive and thus mimic a malignant tumor. This retrospective study compares the pre-operative differences in computed tomography (CT) and histologic findings between patients with a benign SNIP and those with a SNIP-SCC. Methods: Eight patients with SNIP-SCC were selected from the hospital registries of the Department of Otorhinolaryngology, Helsinki University Hospital (Helsinki, Finland). For each case a comparable SNIP case without malignancy was selected. Five histopathologic samples of both the SNIP and SNIP-SCC tumors were retrieved. CT images and the histopathologic samples were re-evaluated by two observers. Results: The nasal cavity and ethmoid and maxillary sinuses were the most common sites for both tumor types. The SNIP tumors were mostly unilateral, and the SNIP-SCC tumors were both unilateral and bilateral. Only SNIP-SCC tumors demonstrated bone defects and orbital or intracranial invasion. Dysplastic findings such as dyskeratosis, nuclear atypia, and maturation disturbances were seen only in the SNIP-SCC tumors. Conclusions: Bony destruction and invasion of adjacent structures in pre-operative CT images seem to be pathognomonic signs of SNIP-SCC based on this series. To differentiate between SNIP and SNIP-SCC tumors all available pre-operative investigations are warranted. Full article

Nasal-type extranodal natural killer/T-cell lymphoma (ENKTL) is a rare, aggressive non-Hodgkin lymphoma associated with the Epstein–Barr virus (EBV). It predominantly affects middle-aged men and is most common in East Asia and Latin America. Due to its nonspecific symptoms, including nasal obstruction and discharge, ENKTL is frequently misdiagnosed as chronic rhinosinusitis or fungal infection, leading to delays in diagnosis and treatment. This case report presents a 46-year-old Algerian male with persistent nasal obstruction, foul-smelling nasal discharge, and progressive midfacial destruction. Multiple biopsies initially suggested chronic rhinosinusitis with fungal infection, delaying the definitive diagnosis. Subsequent deep biopsies confirmed ENKTL through histopathological and immunohistochemical analysis. ENKTL is characterized by its locally invasive nature, leading to necrotizing lesions and midfacial destruction. Histopathological confirmation through multiple well-targeted biopsies is crucial to prevent misdiagnosis. However, the prognosis remains poor, with a 5-year survival rate ranging from 20% to 65%. Full article

This case report presents the clinical evaluation of an 11-year-old boy with a unilateral polypoid nasal mass causing nasal obstruction, facial asymmetry, and intermittent epistaxis. His clinical picture raised concerns of a juvenile nasopharyngeal angiofibroma; however, further imaging and histopathological evaluation ultimately confirmed the diagnosis of allergic fungal rhinosinusitis (AFRS). Although this patient was younger in age than those traditionally associated with AFRS, classical features present on both computed tomography (CT) and magnetic resonance imaging (MRI) aided in his diagnosis and management. This case underscores the importance of a comprehensive diagnostic approach when evaluating unilateral sinonasal masses in paediatric patients, specifically in atypical presentations where the diagnosis of AFRS may not initially be considered. It highlights the critical role of imaging as a diagnostic tool, specifically CT and MRI, which were pivotal in the work-up and management of this case. Additionally, the need for caution during biopsies of sinonasal masses in children is emphasised, as there is potential for catastrophic bleeding in vascularised masses such as juvenile nasopharyngeal angiofibroma. This case demonstrates that AFRS can occur in younger children, highlighting the need to include this in the differential diagnosis, even in patients outside of the traditionally described age group. Full article

TSLP is an alarmin released upon activation of epithelia in response to various external stimuli and is involved in type 2 cytokine-mediated pathological disorders. The formation of a high-affinity heterodimeric receptor complex, comprising the thymic stromal lymphopoietin receptor (TSLPR) chain and IL-7Rα, is required for signaling. This study investigated whether TSLP and TSLPR expression in peripheral blood or nasal polyps could provide a valuable approach for the molecular phenotyping of patients with chronic rhinosinusitis with nasal polyps (CRSwNP). The study population comprised 156 unrelated Caucasian individuals, including 45 controls and 111 patients with CRSwNP. Quantitative PCR analysis of TSLP and TSLPR was performed on the population study’s peripheral blood and nasal biopsy. The data were analyzed for potential associations, and possible use as a biomarker was studied. Significant differences were observed in TSLP and TSLPR blood expression between the control group and patients. Similarly, the expression of TSLP observed in biopsy samples was statistically significantly elevated in the polyp tissue of the patient compared with healthy controls. The combination of TSLP and TSLPR expression testing with peripheral blood eosinophils represents a more specific biomarker in patients exhibiting low eosinophil values. Further investigation of TSLP/TSLPR mRNA levels in peripheral blood may yield new minimally invasive biomarkers. Full article

Acute invasive fungal rhinosinusitis (AIFR) is a rare, severe, and life-threatening opportunistic infection associated with high mortality and morbidity. Rapid and accurate diagnosis and treatment are crucial for survival and effective disease management. Diagnosing AIFR is challenging because no single pathognomonic feature exists other than surgical biopsy showing fungal angioinvasion and necrosis. This narrative review focuses on the diagnostic challenges and pitfalls, emphasizing the critical clinical value of magnetic resonance imaging (MRI) for early diagnosis of AIFR. It includes selected cases that illustrate the significance of MRI. When AIFR is suspected, clinical symptoms, nasal endoscopy, blood samples, and facial computed tomography all provide non-specific information. In contrast, MRI can identify signs of devitalized sinonasal mucosa consistent with AIFR. The absence of mucosal enhancement on T1-weighted images, combined with restricted diffusivity, are characteristic MRI features of AIFR. The cases presented underscore the usefulness of MRI in supporting clinical suspicion of AIFR and accurately determining its topography, thereby guiding early surgical biopsies and debridement. In suspected cases of AIFR, MRI serves as a valuable supplementary, non-invasive tool to help determine whether prompt surgical biopsy or debridement is necessary, thereby enhancing early diagnosis and improving survival rates. Therefore, the threshold for conducting an MRI in these cases should be low. Full article

Background/Objectives: Basal cell carcinoma (BCC), the most common skin malignancy, typically occurs in sun-exposed areas but can develop in atypical locations, such as scars, burns, and skin graft donor sites. BCC arising specifically in full-thickness skin graft donor sites is exceptionally rare. This study presents a unique case of BCC occurring 16 years post-graft harvesting and provides a comprehensive literature review to analyze clinical patterns, possible etiopathogenesis, and treatment strategies. Methods: A case report was described and a comprehensive literature review was conducted using PubMed, Scopus, and Web of Science (up to November 2024). Studies were screened for cases of BCC involving skin graft donor and recipient sites. Extracted data included demographics, graft type, latency period, histopathology, treatment, and outcomes. Results: A 68-year-old woman presented with biopsy-confirmed mixed nodular and micronodular BCC at the donor site of a full-thickness skin graft 16 years after its use for nasal reconstruction. Surgical excision with clear margins resulted in complete resolution without recurrence. A literature analysis revealed seven cases of graft-associated BCC, predominantly affecting older females. Partial-thickness grafts were frequently involved, with latency periods ranging from 1 to 61 years. Nodular BCC was the most common histological subtype, and surgical excision remained the primary and most effective treatment. Conclusions: Although rare, BCC can develop in skin graft donor sites after prolonged latency. Chronic trauma, impaired vascularization, and genetic alterations likely contribute to tumorigenesis. Lifelong surveillance, early detection, and timely intervention are critical to improving outcomes. Full article

Background: Nasal and paranasal sinus masses can arise from a wide range of conditions, both benign and malignant, as well as congenital or acquired. Diagnosing these masses is often challenging, requiring a combination of nasal endoscopy, imaging studies, and histopathological analysis. Initial imaging frequently involves computed tomography or cone beam computed tomography (CBCT) to evaluate the bony anatomy of the nasal cavity and surrounding sinuses, while magnetic resonance imaging (MRI) is typically used for detailed assessment of soft tissues and to aid in differential diagnosis when the findings are inconclusive. Methods: This review examines nasal masses evaluated using CT, CBCT, and MRI, highlighting key imaging features that may assist in differential diagnosis. Results: For non-neoplastic lesions, examples include conditions such as rhinoliths, inverted mesiodens, and septal mucoceles. Benign and borderline tumors discussed encompass lobular capillary hemangioma, inverted papilloma, septal osteoma, chondromesenchymal hamartoma, hemangioma, hemangiopericytoma, antrochoanal polyp, sinonasal angiofibroma, ossifying fibroma, and lipoma. Malignant tumors addressed in this review include adenocarcinoma, esthesioneuroblastoma, non-Hodgkin lymphoma, melanoma, and sarcoma. Conclusions: Diagnosing nasal lesions represent a significant challenge for otolaryngologists. Imaging characteristics of nasal masses play a crucial role in narrowing down differential diagnoses before surgery. However, nasal endoscopy combined with biopsy remains the definitive diagnostic approach. Full article

Background/Objectives: The primary objective of this study was to investigate clinical manifestations, time to diagnosis, and number of biopsies in patients with extranodal natural killer T-cell lymphoma (ENKTL). The secondary objectives were to determine response rates, survival outcomes, prognostic factor for overall survival (OS), and validation of the Prognostic Index of Natural Killer Lymphoma (PINK), Ann Arbor staging system (AASS), and the CA system. Methods: This retrospective study included data pertaining to patients with newly diagnosed ENKTL in Chiang-Mai University Hospital from 2004 to 2020. Comparisons between the areas under the receiver operating characteristic curve (AUC) of prognostic models (PINK, AASS, and CA system) were made. Results: Sixty patients were enrolled (n = 60) with a mean age of 49.1 ± 13.4 years. The most frequent symptom of ENKTL was nasal obstruction (66%). The median time to diagnosis was 22 days (ranging from 3 to 84 days), with 36.7% requiring more than one biopsy for diagnosis. Most patients presented with limited stage disease (75%). The median OS was 49 months. Factors associated with increased mortality were advanced stage, bone marrow involvement, gastrointestinal tract involvement, and receiving chemotherapy. Following prognostic model validation, the CA system model scored the highest level of accuracy (AUC 0.61), followed by AASS (AUC 0.58) and PINK (AUC 0.54). Conclusions: Patients with ENKTL commonly presented with nasal obstruction, with 36.7% requiring more than one biopsy for diagnosis. An advanced stage, bone marrow involvement, or gastrointestinal tract involvement were associated with poor OS. The CA system model has the highest level of accuracy for prognostic determination. Full article

Alterations of the BRAF gene and the resulting changes in the BRAF protein are one example of molecular cancer profiling in humans and dogs. We tested 227 samples of canine carcinomas from different anatomical sites (anal sac (n = 23), intestine (n = 21), liver (n = 21), lungs (n = 19), mammary gland (n = 20), nasal cavity (n = 21), oral epithelium (n = 18), ovary (n = 20), prostate (n = 21), thyroid gland (n = 21), urinary bladder (n = 22)) with two commercially available primary anti-BRAF^V600E antibodies (VE1 Ventana, VE1 Abcam). The immunohistochemical results were confirmed with droplet digital PCR (ddPCR). BRAF^V595E-mutated cases were found in canine prostatic (16/21), urothelial (17/22), and oral squamous cell carcinomas (4/18), while other carcinoma types tested negative. Both antibodies showed consistent results, with intracytoplasmic immunolabeling of tumour cells, making them reliable tools for detecting the BRAF^V595E mutation in canine carcinomas. In conclusion, identifying BRAF mutations from biopsy material offers a valuable opportunity to enhance cancer treatment strategies (BRAF inhibitors) in canine urothelial carcinomas, prostatic carcinomas, and oral squamous cell carcinomas. Full article

Interstitial lung disease (ILD) encompasses a diverse group of parenchymal lung diseases characterized by varying degrees of inflammation and/or fibrosis. Patients with ILD frequently require hospitalization, with many needing intensive care unit (ICU) admission, most often due to respiratory failure. The diagnosis and management of ILD in the ICU present unique challenges. Diagnosis primarily relies on chest CT imaging to identify fibrosis and inflammation. Acute exacerbations, whether in idiopathic pulmonary fibrosis (IPF) or non-IPF ILD, require careful evaluation of potential triggers and differential diagnoses. Bronchoalveolar lavage may provide valuable information, such as the identification of infections, but carries risks of complications. Biopsies, whether transbronchial or surgical, can also be informative but pose significant procedural risks. Corticosteroids are the cornerstone of treatment for acute exacerbations of IPF, with higher doses potentially benefiting non-IPF ILD. Additional immunosuppressive agents may be used in cases with evidence of inflammation. Oxygen supplementation, particularly with high-flow nasal cannula, is often employed to manage severe hypoxemia, while noninvasive ventilation can be useful for worsening hypoxemia and/or hypercapnia. When mechanical ventilation is used, it is recommended to target low tidal volumes to minimize lung injury; high PEEP may be less effective and even associated with increased mortality. Prone positioning can improve oxygenation in severely hypoxemic patients. In addition to ventilatory strategies, careful fluid management and addressing concomitant pulmonary hypertension are essential components of care. Extracorporeal membrane oxygenation is a high-risk intervention reserved for the most severe cases. Lung transplantation may be considered for end-stage ILD patients in the ICU, with outcomes dependent on the urgency of transplantation and the patient’s overall condition. Managing ILD in the ICU requires a multidisciplinary approach, and despite recent advances, mortality remains high, emphasizing the need for continued research and individualized treatment strategies. Full article

Odontogenic cysts are frequently encountered in clinical practice. However, residual cysts, a specific type of inflammatory odontogenic cyst, are relatively rare. These cysts may slowly expand over time, damaging surrounding soft tissues and bone, typically without posing a threat to life. We report the case of a 67-year-old man with liver failure and a cystic tumor in his right maxilla that had invaded his oral cavity and cheek, causing nasal obstruction and severe bleeding following an incisional biopsy. A computed tomography (CT) scan of the mass was nonspecific, and an initial histopathological analysis of the tissues was inconclusive due to chronic inflammation and hemorrhagic alterations, complicating the diagnostic pathway. The suspicion of a potentially aggressive malignant neoplasm and the need for immediate intervention due to bleeding necessitated a tracheotomy, tumor removal, percutaneous endoscopic gastrostomy, and transfusions of red blood cells. A subsequent histopathological examination revealed features indicative of a residual cyst. The entire lesion was excised through functional endoscopic sinus surgery. The surgical treatment was performed safely and effectively. Follow-up CT confirmed complete removal of the lesion. This case highlights a rare yet possible complication of odontogenic cysts and underscores the necessity of early diagnosis and comprehensive prophylaxis to prevent severe complications. Full article

The Pseudomonas genus includes ubiquitous bacteria frequently described as animal and human opportunistic pathogens. A 9-year-old cat was referred for rhinoscopy at the Veterinary Hospital of the Faculty of Veterinary Medicine, University of Lisbon, Portugal, for an investigation of the chronic respiratory signs. Upon rhinoscopy, nasal and nasopharyngeal discharge were observed, and the nasal turbinates showed signs of inflammation. The nasal biopsies were evaluated by histopathology and mycological and bacterial cultures. The histopathology revealed chronic lymphoplasmacytic inflammation. The mycological culture was negative, but the bacterial culture revealed the growth of a bacterial isolate in the pure culture, identified as P. aestus by the sequencing of a 1750 bp PCR amplicon obtained with BCR1 and BCR2 primers, followed by homologous sequences analysis using the NCBI database. The isolate’s susceptibility profile towards 14 antimicrobials was evaluated through the disk diffusion method, being observed that it presented a multidrug resistance profile. The studies available on this environmental Pseudomonas strain focused on its potential use for biocide production and application in agricultural settings, and, to the authors’ best knowledge, there are no reports describing its association with infectious diseases in humans or animals, highlighting the importance of establishing protocols aiming at the identification and characterization of non-traditional, multidrug-resistant Pseudomonas in the clinical setting. Full article

Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions of Hereditary Hemorrhagic Telangiectasia (HHT). Somatic second-hit loss-of-function variations in the HHT causative genes, ENG and ACVRL1, have been described in dermal telangiectasias. It is unclear if somatic second-hit mutations also cause the formation of AVMs and nasal telangiectasias in HHT. To investigate the genetic mechanism of AVM formation in HHT, we evaluated multiple affected tissues from fourteen individuals. DNA was extracted from fresh/frozen tissue of 15 nasal telangiectasia, 4 dermal telangiectasia, and 9 normal control tissue biopsies, from nine unrelated individuals with HHT. DNA from six formalin-fixed paraffin-embedded (FFPE) AVM tissues (brain, lung, liver, and gallbladder) from five individuals was evaluated. A 736 vascular malformation and cancer gene next-generation sequencing (NGS) panel was used to evaluate these tissues down to 1% somatic mosaicism. Somatic second-hit mutations were identified in three in four AVM biopsies (75%) or half of the FFPE (50%) samples, including the loss of heterozygosity in ENG in one brain AVM sample, in which the germline mutation occurred in a different allele than a nearby somatic mutation (both are loss-of-function mutations). Eight of nine (88.9%) patients in whom telangiectasia tissues were evaluated had a somatic mutation ranging from 0.68 to 1.96% in the same gene with the germline mutation. Six of fifteen (40%) nasal and two of four (50%) dermal telangiectasia had a detectable somatic second hit. Additional low-level somatic mutations in other genes were identified in several telangiectasias. This is the first report that nasal telangiectasias and solid organ AVMs in HHT are caused by very-low-level somatic biallelic second-hit mutations. Full article

Metastatic disease is a complex and sequential process that involves the migration of tumor cells from the primary site to distant areas. This metastatic pathway is not always predictable. Therefore, this paper presents three rare cases of unusual metastases, due to their primary site: two metastases of a clear cell renal cell carcinoma, one gingival, and one nasal, as well as a mandibular metastasis of a hepatocellular carcinoma. In all cases, an incisional biopsy was performed in order to find out the diagnosis. After microscopical examination of morphological Hematoxylin and Eosin-stained slides, for all cases, immunohistochemical reactions were performed to support the primary tumor site. Two cases had a previous histopathological diagnosis of a primary tumor, while for the third case, the metastatic lesion represented the first manifestation of the neoplastic disease, with an unfavorable prognosis. Full article

Tenoxicam, a selective cyclooxygenase (COX)-2 inhibitor, has potent analgesic and anti-inflammatory effects and is frequently used for out-of-hospital pain control. Even though other non-steroidal anti-inflammatory drugs were incriminated in Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) appearance, the literature is scarce regarding this agent. We report a case of tenoxicam-induced toxic epidermal necrolysis, detailing the multidisciplinary approach in a patient presenting skin detachment of 90% of the total body surface area, with concomitant ocular, oral, nasal, and vaginal mucosae involvement. A skin biopsy confirmed the diagnosis. The immediate cessation of the incriminated drug and rapid initiation of systemic steroids, along with topical therapies, and isolation into a specific environmental condition to limit skin infection were the cornerstones of therapeutic management. The patient was discharged with skin hyperpigmentation area and mild anxiety as long-term sequels. This report emphasized that severe or complicated cases should be transferred to a specialized burn center to reduce mortality risk and long-term morbidity. Full article