Primary non-cutaneous melanomas of the head and neck: Case series and review of the literature.

Primary non-cutaneous melanoma is a rare type of melanoma that occurs mostly on mucosal surfaces. The head and neck region is the most common site for these melanomas. The following cases described herein include patients diagnosed with primary non-cutaneous melanomas. The locations included the parotid gland (one case), the submandibular gland (one case), and the nasal cavity and paranasal sinuses (three cases). Among these patients, one patient developed lymph node metastasis and one patient had distant metastasis. Treatment included endoscopic surgery (one case), endoscopic surgery with adjuvant radiotherapy (one case), open surgery (one case), and palliative chemotherapy (one case). One patient refused to receive treatment. After treatment, one patient had local recurrence. A local and distant recurrence was noted in one case. This report aims to describe clinical features, treatment options, and prognosis of primary non-cutaneous melanomas of the head and neck.

Hyoid Bone Fracture Secondary to a Blunt Neck Trauma: A Report of 2 Cases.

Hyoid bone fracture unrelated to strangulation is a rare occurrence characterized by a subtle presentation. However, it may manifest as a fatal respiratory distress due to airway obstruction. We present 2 cases of hyoid bone fractures that occurred following a traffic accident in 2 male patients. Both patients presented with either a neck pain or a dysphagia. Physical examination findings were limited to neck sensibility at palpation, saliva stasis, and laryngeal congestion at the laryngeal endoscopy. In both patients, the diagnosis was confirmed through computed tomography. In the first patient, the fracture was simple and located at the body of the hyoid bone, while in the second patient, it involved the greater horn with a medial displacement of the fractured fragment. Due to the clinical presentation, we successfully treated both our patients conservatively through a 48 hour observation, analgesics, steroids, antibiotics, neck rest, and semiliquid diet. This study highlights a rare occurrence of 2 cases of hyoid bone fracture unrelated to strangulation, which emphasizes on the importance of a high clinical suspicion to make the diagnosis of this entity.

Cervical Aggressive Fibromatosis Causing Airway Obstruction.

Fibromatosis or desmoid tumors are rare benign fibroblastic lesions that are rarely present in the head and neck regions. When they do occur in these regions, however, they tend to be aggressive toward the surrounding tissue and be associated with heavy morbidity and mortality. We report the case of a 26-year-old Tunisian female who presented with acute obstructive dyspnea and a 3-week history of cervical swelling. The swelling was initially only located in the left submandibular area, it then gradually extended to all the anterior cervical supra- and infrahyoid regions causing a clinical presentation resembling that of obstructive dyspnea, the patient was admitted, and an emergency tracheotomy was performed. Tissue samples were taken, pathological analysis revealed an aggressive case of fibromatosis. The patient was treated with corticosteroids and antihormonal therapy, the fibrous mass shrunk considerably allowing the removal of the tracheotomy cannula, no tumor recurrence was noted during the observation period. Due to the rarity of this disease, especially in the cervical region, there are no therapeutic guidelines available.

Olfactory cleft mass as the first presentation of asymptomatic metastatic renal cell carcinoma: A case report and review of the literature.

INTRODUCTION AND IMPORTANCE: Renal cell carcinoma metastasis in the sinonasal cavities is rare. They account for less than 1 % of all metastases of these renal cancers. CASE PRESENTATION: We report the case of a patient with an unremarkable pathological history, who consulted for recurrent right epistaxis. Nasal endoscopy revealed a reddish mass located medial to the right middle turbinate. Computed tomography and magnetic resonance imaging showed a lesion located at the level of the olfactory cleft. The patient had a complete removal of the mass and the anatomopathological examination concluded to a metastasis of a clear cell carcinoma of renal origin. Taking into account these results, a thoraco-abdomino-pelvic CT scan was performed and it discovered a left renal tumor. CLINICAL DISCUSSION: The most frequent functional sign of Renal cell carcinoma metastases is epistaxis. This is explained by the rich vascularity of these metastases. The imaging data are not specific and do not allow differentiation between primary tumor and metastasis. The definitive diagnosis can be confirmed only by histologic examination. CONCLUSION: Faced with any hypervascularized tumor of the nasal cavity, the ENT physician must evoke a metastasis of a renal cancer, even in the absence of history and symptoms evoking this cancer.

Burkitt's Thyroid Lymphoma Revealed in a Pregnant Woman With Acute Dyspnea.

Extraganglionic Burkitt's lymphoma is rare. Primary thyroid localization accounts for 1% to 5% of malignant tumors of the thyroid gland. The association of Burkitt's lymphoma and pregnancy is even rarer. Our patient was pregnant at 36 weeks. She was brought to the emergency department with anterior cervical swelling, rapidly increasing in volume and becoming compressive for 15 days, in addition to dysphonia and inspiratory dyspnea. Cervical ultrasound and computed tomography scan revealed a compressive and plunging goiter. Surgery attempted after fetal extraction proved impossible due to massive tumor infiltration into adjacent structures shielding the cervical region. Accordingly, the act was limited to a glandular biopsy. The newborn was healthy. Histological examination confirmed the diagnosis of Burkitt's lymphoma. Given the poor general condition of the patient, chemotherapy was not administered and the patient died after 15 days of stay in intensive care unit.

Solitary Fibrous Tumor of the External Auditory Canal.

Solitary fibrous tumors (SFTs) originating from the external auditory canal are uncommon; only few cases have been reported in the literature. In this article, we report a case of a 35-year-old man who presented with a 6-month history of a gradual swelling in the entrance of the left external auditory meatus associated with hearing loss. The tumor was surgically removed, and histological examination showed spindle-cell proliferation with a collagenous stroma. Immunohistochemically, the tumor cells were positive for CD34 confirming the diagnosis of an SFT. Although SFTs are benign, complications such as relapses and metastasis after excision were reported. Thus, a careful and long follow-up is recommended.

Developing learning objectives in postgraduate medical education for family medicine (Tunisia).

Introduction-Aim: The third cycle of medical studies (TCMS) lasts 3 years for the specialty of family medicine (FM) in Tunisia. The members of the FM committee of the Faculty of Medicine of Monastir (FMM) aimed to detail the learning objectives (LO) of residents in FM. METHOD: We used the Delphi method in 2 rounds including a group of experts called FM Learning Objectives Writing Group (FMLOWG) at the FMM. The FMLOWG included 74 university hospital physicians and FM internship supervisors. These members actively participated in the 10 meetings held during the month of March 2022. Three points were discussed: the identification of LOs; the development of training titles and the proposal of the teaching methods to be adopted. The writing was subdivided into 5 domains of LO: transversal, public health, typical population and by system. RESULTS: We identified 1359 LOs for FM residency, for which 552 were LOs per system (40.5%). The learning included 618 training session titles. Residents will have an academic training day every 3 weeks during 9 months for each TCMS year. CONCLUSION: A detailed, MF-specific consensus has been developed by majority of medical specialties. It will be a learning base for learners, a reference for supervisors and TCMS teachers.

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

BACKGROUND: In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and the early diagnosis of causal mutations by next-generation sequencing help significantly alleviate social and economic problems. METHODS: We elaborated a custom SureSelectQXT panel for next-generation sequencing of the coding sequences of 42 genes involved in isolated hearing impairment or along with defects of the retina, the thyroid, and the kidneys. RESULTS: We report eight pathogenic variants, four of which are novel in patients with isolated hearing impairment, hearing impairment, and renal tubular acidosis, Usher syndrome and Pendred syndrome. Functional studies using molecular modeling showed the severe impact of the novel missense mutations on the concerned proteins. Basically, we identified mutations in nuclear as well as mitochondrial genes in a Tunisian family with isolated hearing impairment, which explains definitely the phenotype detected since 2006. CONCLUSION: Our results expanded the mutation spectrum and genotype-phenotype correlation of isolated and syndromic hearing loss and also emphasized the importance of combining both targeted next-generation sequencing and detailed clinical evaluation to elaborate a more accurate diagnosis for hearing impairment and related phenotypes especially in North African populations.

Basal cell adenoma of the parotid gland: A rare entity.

Basal cell adenoma (BCA) is a rare benign salivary gland tumor accounting for only 1-2% of all salivary gland tumors. We report a case of a 50-year-old man presenting a BCA of the parotid gland. A pleomorphic adenoma was initially suspected based on radiological features and fine needle aspiration cytology findings (FNAC).

Parapharyngeal Lymph Node Metastasis From Papillary Thyroid Carcinoma.

Metastatic parapharyngeal lymph nodes (LNs) from papillary thyroid carcinomas (PTC) are uncommon and can easily remain undetected. We describe a case that involves a 62-year-old woman treated for a PTC, who presented a rise in serum thyroglobulin (TG) levels. A computed tomography scan was performed, and revealed metastatic nodes in the left parapharyngeal space (PPS). A surgical resection of the nodes was performed with external cervical approach. A histological exam confirmed the diagnosis of a metastatic LN of a PTC. The aim of this report is to emphasize on the possibility of parapharyngeal metastatic nodes in PTC and to describe the diagnosis methods, treatment options, and impact on the prognosis.

Rhino-orbital cerebral mucormycosis in a child with type 1 diabetes: A case report.

Rhino-orbital cerebral mucormycosis is a rare but potentially severe fungal infection in children with high rate of morbidity and mortality. In pediatric patients, uncontrolled diabetes mellitus is considered to be a predisposing factor only in 15% of cases. To prevent and reduce mortality rate of this severe disease, early diagnosis based on clinical findings and biopsy is highly recommended. Herein, we report a case of rhino-orbital cerebral mucormycosis in a 12-year-old girl with type 1 diabetes to demonstrate that a multimodal management approach, involving early surgery which consists in frequent endoscopic sinus debridement and appropriate antifungal therapy, is essential to effectively reduce the spread of infection and achieve effective outcome.

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.

Introduction: Hearing impairment (HI) is characterized by complex genetic heterogeneity. The evolution of next generation sequencing, including targeted enrichment panels, has revolutionized HI diagnosis. Objectives: In this study, we investigated genetic causes in 22 individuals with non-GJB2 HI. Methods: We customized a HaloplexHS kit to include 30 genes known to be associated with autosomal recessive nonsyndromic HI (ARNSHI) and Usher syndrome in North Africa. Results: In accordance with the ACMG/AMP guidelines, we report 11 pathogenic variants; as follows; five novel variants including three missense (ESRRB-Tyr295Cys, MYO15A-Phe2089Leu and MYO7A-Tyr560Cys) and two nonsense (USH1C-Gln122Ter and CIB2-Arg104Ter) mutations; two previously reported mutations (OTOF-Glu57Ter and PNPT1-Glu475Gly), but first time identified among Tunisian families; and four other identified mutations namely WHRN-Gly808AspfsX11, SLC22A4-Cys113Tyr and two MYO7A compound heterozygous splice site variants that were previously described in Tunisia. Pathogenic variants in WHRN and CIB2 genes, in patients with convincing phenotype ruling out retinitis pigmentosa, provide strong evidence supporting their association with ARNSHI. Moreover, we shed lights on the pathogenic implication of mutations in PNPT1 gene in auditory function providing new evidence for its association with ARNSHI. Lack of segregation of a previously identified causal mutation OTOA-Val603Phe further supports its classification as variant of unknown significance. Our study reports absence of otoacoustic emission in subjects using bilateral hearing aids for several years indicating the importance of screening genetic alteration in OTOF gene for proper management of those patients. Conclusion: In conclusion, our findings do not only expand the spectrum of HI mutations in Tunisian patients, but also improve our knowledge about clinical relevance of HI causing genes and variants.

[Performance of the magnetic resonance imaging in parotid gland tumor histopathology]. / Performance de l´imagerie par résonance magnétique dans l´approche histopathologique des tumeurs parotidiennes.

INTRODUCTION: salivary gland tumors mainly occur in the parotid gland. These tumors are rare but are characterized by histological heterogeneity, thus posing diagnostic challenges. Magnetic resonance imaging (MRI) is currently the most reliable imaging test for the evaluation of these tumors. The purpose of this study was to highlight the diagnostic value of MRI and its role in parotid gland tumor histopathology. METHODS: we conducted a retrospective descriptive and analytical study of 50 patients with parotid gland tumor, operated and treated in the ear, nose and throat (ENT) Department and in the Department of cervicofacial surgery at the Tahar Sfar University Hospital of Mahdia between 2001 and 2019. All patients underwent preoperative MRI of the parotid gland. RESULTS: out of 50 patients included in the study, 36 (72%) had benign tumor and 14 (28%) malignant tumor. The sensitivity of MRI for the diagnosis of malignant tumor was 92.8% with a specificity of 97.2%, a negative predictive value of 93% and a positive predictive value of 97%. With respect to benign tumor characterization, MRI suggested the diagnosis of Warthin tumor in all cases (13 cases) and of pleomorphic adenoma in 22 out of 23 cases. There were two diagnostic errors: MRI suggested the diagnosis of pleomorphic adenoma instead of adenoid cystic carcinoma in one case and of malignant tumor instead of pleomorphic adenoma due to diffusion restriction. CONCLUSION: MRI is highly efficient in the assessment of parotid tumor histology and, especially, after the advent of new functional sequences. However, only histological examination allows to confirm with certainty the diagnosis.

Necrotising otitis externa: A single centre experience.

INTRODUCTION: Necrotising otitis externa (NOE) is a rare infection of the ear canal with frequent bone erosion. This study's objective is to describe the different features of NOE as well as its management in an ear-nose-throat department. We also tried to identify the particularities of the fungal infection. PATIENTS AND METHODS: It is an observational cohort that included all the patients hospitalised for the management of NOE. The study was carried out in the ear-nose-throat Department of Mahdia University Hospital in Tunisia between January 2006 and december 2019. RESULTS: A total of 40 patients were included. The mean age was 65 ± 12.9 years and the sex ratio was 0.9. Ninety percent of the patients included were diabetics. The most common signs found were oedema of the external canal (97.5%) and auricular discharge (92.5%). The main pathogen isolated was Pseudomonas aeruginosa (61.7%). Fungi were isolated in 9 cases (26.47%). Computed tomography was performed for 32 patients (80%). Bone erosion was seen in 26 cases (81.3%). The main complications were cerebral venous thrombosis, retropharyngeal abscess and cerebral empyema. Thirty one patients received only antibiotics, 2 received only antifungal treatment, and 7 received both antibiotics and antifungal treatment. All patients had a favorable outcome. Univariate analysis showed a higher median erythrocyte sedimentation rate was associated with fungal infections. No other differences were noted. CONCLUSION: Our management protocol seems to be efficient since all patients had initial favorable outcome. A higher median erythrocyte sedimentation rate was associated with fungal infections.

Noninvasive fungal rhinosinusitis: a case series.

Introduction: Fungal rhinosinusitis (FRS) remains a rare disease. The noninvasive forms are hard to diagnose. The management protocols remain controversial. We aim to describe the clinical, radiological and pathological features of noninvasive FRS and present our management protocol and follow-up results. Patients and methods: This descriptive study was conducted in the ear-nose-throat department of the university hospital, Taher Sfar in Mahdia, Tunisia. All patients who responded to the definition of noninvasive FRS (fungal balls and allergic fungal sinusitis) were included. The study was conducted over a three year period (May 2017 - April 2021). Results: Eleven patients were included in this study: four cases of fungal balls and seven cases of allergic fungal sinusitis. Patients presented with symptoms of chronic recurrent rhinosinusitis with no response to conventional treatments. Computed tomodensitometry scan showed opacification of the paranasal sinuses in all patients. Other signs were heterogeneous opacities, local calcifications and thinning of the bony walls of the sinuses. Histopathological findings were inflammatory polyps in all cases of allergic FRS with the presence of fungal hyphae in 42.8% of the cases. All patients underwent surgery after a median delay of 12 [6-24] months of the symptom's onset. The used procedures were endoscopic middle meatal antrostomy for all patients, ethmoidectomy (81.8%) and sphenoidotomy (36.4%). None received systemic antifungals or corticosteroids with a favorable outcome in all cases. Conclusion: Symptoms of noninvasive FRS are nonspecific. The scan images contribute to the diagnosis, but the perioperative findings and the histopathological results remain crucial.  The management is mainly surgical.

Isolated Myxoma of the External Auditory Canal: A Case Report and Literature Review.

Myxoma is a benign myxoid tumor of connective tissue that develops primarily in the heart. At the level of the external auditory canal, it is extremely rare. It can be isolated or associated with Carney syndrome. Only 5 cases of isolated myxoma of the external auditory canal have been reported in the literature. We present the case of a 53-year-old patient who consulted for a hearing loss that has been evolving for 3 years. Otoscopy revealed a mass filling the external auditory canal. The scan showed a total filling of the external auditory canal with a homogenous sessile neoformation of 20 × 10 mm. This mass was completely resected and the histological examination showed spindle-shaped and star-shaped cells against an abundant myxoid background, which was consistent with myxoma. All the tests, done to eliminate Carney syndrome, did not reveal any abnormalities. The postoperative course was favorable, and no complications were noted. The patient was under follow-up. There was no recurrence 1 year after surgery.

A case of giant sarcomatoid carcinoma ex-pleomorphic adenoma of the parotid gland.

Carcinoma ex pleomorphic adenoma is a rare malignant parotid neoplasm arising from primary or recurrent benign pleomorphic adenoma. Histologically, it can be sub-classified by upwards of eight different variations (e.g., myoepithelial carcinoma, salivary duct carcinoma, adenoid cystic carcinoma sarcomatoid carcinoma). We present the fourth case in the literature of sarcomatoid carcinoma arising from an underlying pleomorphic adenoma of the parotid gland. We present a case of a 47-year-old female who consulted for a left parotid mass of 15cm long axis. There was no facial paralysis. Fine needle aspiration cytology smears showed a pleomorphic adenoma. The parotid MRI showed a left parotid mass, with heterogeneous signal (hyposignal T1 and hypersignal T2 and in diffusion sequences). The patient underwent a total parotidectomy with a pleomorphic adenoma on extemporaneous examination. Histological examination of the part revealed a pleomorphic adenoma on which a sarcomatoid carcinoma developed. Therefore, a second operation occurred. We performed selective lymph node dissection carrying out the sectors I, II and III followed by radiotherapy. The evolution was favorable. In addition to its rarity, our case joins historical cases by its huge size.

Predictive epidemiological and clinical factors of nasopharyngeal carcinoma diagnosis: Adult versus pediatric population.

OBJECTIVE: The objective of this study is to compare the clinical presentation and the cancer staging of nasopharyngeal carcinoma (NPC) between pediatric and adult populations to highlight the main characteristics of this disease within the two subgroups. MATERIEL AND METHODS: It is a retrospective study including all patients with a primary diagnosis of NPC over a period of 19 years. The pediatric group included patients aged less then 16 years old. RESULTS: A total of 80 patients were included. The pediatric population represented 22.5% of the cases. No difference in gender distribution was found (p˃.05). The most common presenting symptom was neck mass in children (77.8% vs. 48.4%, p = .02), and nasal obstruction in adult patients (64.5% vs. 16.7%, p < .01). The median time between the presenting symptom's onset and the diagnosis was 5 months. The diagnosis of NPC was delayed in pediatric patients compared to adults (<0.05). We noted a predominance of patients with stages III and IV (32.5% and 40%, respectively) with no difference between the two subgroups (p˃.05). CONCLUSION: Our study showed some differences in NPC clinical features between pediatric patients and adults. Neck mass was the most common symptom in children. The initial presentation is sometimes misleading. NPC was mainly diagnosed in advanced locoregional stages in both pediatric and adult patients. Efforts toward early diagnosis are of great importance.