A 46-Year-Old Woman with a 4-Year History of Graves Disease, with Severe Corticosteroid-Unresponsive Thyroid Eye Disease, Successfully Treated with Tocilizumab.

BACKGROUND Tocilizumab is a therapeutic biologic antagonist of the interleukin-6 (IL-6) receptor that has been approved to treat some autoimmune and chronic inflammatory diseases. This report is of a patient with a history of Graves disease and severe corticosteroid-unresponsive thyroid eye disease that included edema of the optic nerve and choroid, which was successfully treated with tocilizumab. CASE REPORT A 46-year-old woman with a 4-year history of Graves disease presented with acutely progressive bilateral severe optic nerve compression, severe bilateral optic nerve edema, bilateral restriction of eye movement, and bilateral choroidal folds. The patient was managed with an initial high dose of systemic steroid without any success. She then underwent bilateral orbital wall decompression without any noticeable amelioration. She subsequently received 4 doses of a tocilizumab (8 mg/kg) infusion. This resulted in a considerable decrease in inflammatory signs and improvement in optic nerve function, thereby improving her quality of life. The patient did not have any adverse reactions to the tocilizumab. CONCLUSIONS The findings from this case support recent case reports and clinical trials indicating that tocilizumab may be effective in corticosteroid-resistant thyroid eye disease associated with autoimmune hyperthyroidism.

Obstructive sleep apnea in a case of ehlers-danlos syndrome.

Ehlers-Danlos Syndrome (EDS) is a group of rare connective tissue disorders characterized by genetic defects in collagen and connective tissue synthesis and structure, with manifestations ranging from asymptomatic or mild skin and joint hyperlaxity to severe physical disability. Mild asymptomatic forms of Ehlers-Danlos syndrome seems to be under diagnosed and may have severe systemic complications mainly cardio vascular. Cartilaginous defects in the head and neck region increase the risk of Sleep-Disordered Breathing (SDB) especially Obstructive Sleep Apnea (OSA). It is well admitted now that OSA has many, frequently cardiovascular, adverse effects which are added to the risk of Ehlers-Danlos Syndrome's itself cardiovascular complications. We report a case of EDS diagnosed since childhood with a long history of fatigue, daytime somnolence, snoring and unrefreshing sleep. Although the diagnosis of sleep apnea was suspected because of worsening of his symptoms ten years prior to his referral to our sleep laboratory, he was never investigated for Sleep-disordered breathing and was lost to follow up. This case report relays what is stated in the literature regarding the association of SDB, mainly OSA, with EDS and its toll on the health of such individuals.

Nasal-type T-cell lymphoma referred as fungal rhinosinusitis: Case report.

NKTCL is a rare and destructive midline tumor that can be easily misdiagnosed as other more common inflammatory processes. The differential diagnosis of NKTCL should always be kept in mind for any lesion of the paranasal sinuses with atypical presentation and nonresponsive to conventional treatments.

Phonatory symptoms and impact on quality of life in female patients with goiter.

Our objective is to report on the prevalence of phonatory symptoms and impact on quality of life in a group of female patients with goiter who had not been selected for surgery or who had not presented to the emergency room with respiratory distress. A total of 40 patients with goiter and 14 controls were enrolled in this study. Demographic data included age, sex, laryngopharyngeal reflux disease, allergy, smoking, duration of disease, presence or absence of compressive symptoms, presence or absence of thyroid gland nodules, vascular status, presence or absence of calcifications, and thyroid-stimulating hormone levels. Phonatory symptoms included hoarseness, vocal fatigue, vocal straining, lump sensation, and aphonia. The Voice Handicap Index 10 was used to assess the impact of phonatory symptoms on quality of life. The most common phonatory symptom in the patients with goiter was vocal fatigue followed by lump sensation. The only phonatory symptom that was significantly more present in patients with goiter was vocal straining. As for the impact of phonatory symptoms on quality of life, 15.8% of goiter patients had a Voice Handicap Index score >7 compared with 7.7% of controls. Phonatory symptoms are common in patients with goiter, with vocal straining occurring significantly more frequently than in controls. In 1 of 6 patients, the presence of phonatory symptoms had an impact on quality of life.

Inverted papilloma of the ethmoid sinus Case report and review of the literature.

Importance: Description of a primary inverted papilloma of the ethmoid sinus. This has never been documented before in the literature. Observation: The clinical presentation, along with the radiographic features, gross findings and management will be discussed. Conclusions and Relevance: In contrast to the vast majority of cases that present with nasal complaints, the clinical presentation of an inverted papilloma confined to the ethmoid sinus was incidental. Radiologic findings are nonspecific. Functional endoscopic sinus surgery with total removal of the mass is the therapy of choice to reach a final pathologic diagnosis, prevent recurrence and other sequelae.

Hybrid tumor of the parotid gland: a case report and review of the literature.

The parotid gland is the most common location of benign neoplasms affecting major salivary glands. Hybrid tumors are very rare tumor entities which are composed of two different tumor types, each of which conforms to an exactly defined tumor category. The tumor entities of a hybrid tumor are not separated but have an identical origin within the same topographical area. This report describes a 51-year-old male with three neoplasms occurring within a single parotid gland tumor. The clinical, radiological, and histologic features are described in addition to a review of the literature.

Fibroblastic and myofibroblastic tumors of the head and neck: comprehensive imaging-based review with pathologic correlation.

Fibroblastic and myofibroblastic tumors of the head and neck are a heterogeneous group of disorders characterized by the proliferation of fibroblasts, myofibroblasts, or both. These tumors may be further subclassified on the basis of their behavior as benign, intermediate with malignant potential, or malignant. There are different types of fibroblastic and myofibroblastic tumors that can involve the head and neck including desmoid-type fibromatosis, solitary fibrous tumor, myofibroma/myofibromatosis, nodular fasciitis, nasopharyngeal angiofibroma, fibrosarcoma, dermatofibrosarcoma protuberans, fibromatosis coli, inflammatory myofibroblastic tumor, ossifying fibroma, fibrous histiocytoma, nodular fasciitis, fibromyxoma, hyaline fibromatosis and fibrous hamartoma. Although the imaging characteristics of fibroblastic and myofibroblastic tumors of the head and neck are nonspecific, imaging plays a pivotal role in the noninvasive diagnosis and characterization of these tumors, providing information about the constitution of tumors, their extension and invasion of adjacent structures. Correlation with the clinical history may help limit the differential diagnosis and radiologists should be familiar with the imaging appearance of these tumors to reach an accurate diagnosis.

Revisiting Down syndrome from the ENT perspective: review of literature and recommendations.

Down syndrome is the most common chromosomal abnormality among live born infants reaching up to 1 in 700 births and is characterized by a variety of dysmorphic features and medical conditions. The potential to reach their full developmental capacities can be hindered by ear, nose, and throat problems. Hence, knowledge of the various anatomic peculiarities that predispose them to various medical conditions is fundamental. The medical states resulting from these variations and suggested treatment options are reviewed. Such conditions include refractory otitis, eustachian tube dysfunction, laryngomalacia, tracheal stenosis, obstructive sleep apnea, hearing loss, and voice and articulatory impairments. This review revisits besides the otolaryngeal pathologies, special medical considerations in Down's syndrome patients that might affect surgical outcomes used in the management of the above pathologies.

Chondro-osseous respiratory epithelial adenomatoid hamartoma of the nasal cavity

INTRODUCTION: Chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH) is a benign lesion of the nose and sinuses that is extremely rare, with only 2 cases reported in the literature to date. CASE REPORT: We present herein the third reported case of COREAH, in a 38-year-old woman who presented with left nasal obstruction and a mass in her left nasal cavity. The mass was completely resected endoscopically. Microscopic examination showed hamartomatous proliferation of respiratory-type glands with mucinous metaplasia admixed with numerous spicules of mature bone, characteristic of COREAH. CONCLUSION: COREAH is a benign hamartomatous proliferation of respiratory epithelium, submucosal glands, and chondro-osseous mesenchyme. The clinical differential diagnoses for such lesions include glandular hamartoma, inflammatory polyp, inverted papilloma, and low-grade sinonasal adenocarcinoma. Recognition of this lesion as benign despite its potentially worrisome radiographic appearance is important to avoid an unnecessarily radical surgical procedure.

Dermatofibrosarcoma protuberans (DFSP) successfully treated with sorafenib: case report.

DFSP is a locally invasive, slow-growing tumor of the subcutaneous tissue that rarely metastasizes but recurs frequently after surgical excision. We report herein a case of highly recurrent, locally invasive DFSP that failed both postoperative radiation therapy and complete trial of Imatinib, but was successfully treated with Sorafenib, which showed unprecedented response.

Lipomatous lesions of the parotid gland: analysis of 70 cases.

OBJECTIVES/HYPOTHESIS: To investigate presenting signs and symptoms, preoperative workup, operative therapy, and morbidity of benign and malignant lipomatous lesions of the parotid gland. STUDY DESIGN: Medical literature review and retrospective chart review for all patients who underwent surgery for lipomatous lesions of the parotid gland at our institution from 1959 to 2009. METHODS: Seventy patients underwent surgery for such lesions. Histologic sections were stained with hematoxylin-eosin and reviewed, and clinical information was obtained from hospital medical records for each case. RESULTS: Forty-nine patients (70.0%) were male and 21 (30.0%) female (mean age, 49.9 years). Of the lesions, 43 (63.2%) were intraparotid, 25 (36.8%) periparotid, 69 (98.6%) unilateral, and 1 (1.4%) bilateral (average size, 3.7 cm). Fifty-nine patients were treated with superficial or partial superficial parotidectomy, 10 were treated with total parotidectomy, and one was treated with parapharyngeal space dissection. Complications included six cases (8.6%) of facial paresis or paralysis and two cases of hematoma. No lesions recurred. CONCLUSIONS: We present the largest series, to our knowledge, of lipomatous lesions of the parotid gland. These masses, although rare, should be considered in the evaluation of a parotid mass. This series provides insight into the clinical presentation, diagnostic evaluation, and surgical treatment of parotid lipomatous lesions. Surgical extent depends on lesion location in the gland. Lipomatous masses can be effectively treated surgically with low morbidity and high cure rates.

Chondro-osseous respiratory epithelial adenomatoid hamartoma of the nasal cavity.

INTRODUCTION: Chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH) is a benign lesion of the nose and sinuses that is extremely rare, with only 2 cases reported in the literature to date. CASE REPORT: We present herein the third reported case of COREAH, in a 38-year-old woman who presented with left nasal obstruction and a mass in her left nasal cavity. The mass was completely resected endoscopically. Microscopic examination showed hamartomatous proliferation of respiratory-type glands with mucinous metaplasia admixed with numerous spicules of mature bone, characteristic of COREAH. CONCLUSION: COREAH is a benign hamartomatous proliferation of respiratory epithelium, submucosal glands, and chondro-osseous mesenchyme. The clinical differential diagnoses for such lesions include glandular hamartoma, inflammatory polyp, inverted papilloma, and low-grade sinonasal adenocarcinoma. Recognition of this lesion as benign despite its potentially worrisome radiographic appearance is important to avoid an unnecessarily radical surgical procedure.

Effect of fasting on laryngopharyngeal reflux disease in male subjects.

To address the effect of fasting on laryngopharyngeal reflux disease (LPRD). A total of 22 male subjects have been recruited for this study. Subjects with vocal fold pathologies, recent history of upper respiratory tract infection or laryngeal manipulation were excluded. Demographic data included age and history of smoking. All subjects were evaluated while fasting for at least 12 h and non-fasting. By non-fasting we mean that they ate and drank during the day at their discretion with no reservation. The abstention from water and or food intake during the non-fasting period extended from few minutes to 3 h. All subjects were evaluated at the same time during the day. The evaluation consisted of a laryngeal examination and the Reflux Symptom Index (RSI). The Reflux Finding Score (RFS) was used to report on the reflux laryngeal findings. Subjects were considered to have LPRD if either the RSI or the RFS were positive (>9 RSI, >7 RFS). There was a non-significant increase in the total prevalence of LPRD while fasting compared to non-fasting (32 vs. 50 % while fasting, p value 0.361). In the RSI, the most common symptoms while non-fasting and fasting were throat clearing (64 vs. 68 %), postnasal drip (45 vs. 59 %) and globus sensation (36 vs. 50 %). The average score of all the three increased significantly while fasting. For the RFS the most common laryngeal findings in the non-fasting group versus the fasting group were erythema (77 vs. 68 %), thick endolaryngeal mucus (77 vs. 77 %) and posterior commissure hypertrophy (55 vs. 64 %). Fasting results in a nonsignificant increase in laryngopharyngeal reflux disease. The increase can be hypothetically explained on the change in eating habits and the known alterations in gastric secretions during Ramadan. Fasting subjects must be alert to the effect of LPRD on their throat and voice in particular.

Thyroid cancer in Lebanese children and adolescents: a 15-year experience at a single institution.

BACKGROUND AND AIM: Thyroid carcinomas are rare in childhood and adolescence. Management of this entity remains controversial. The aim of this study is to review our experience with multidisciplinary management of papillary thyroid cancer in the pediatric population at a tertiary care specialized medical center in Lebanon. PROCEDURE: The medical records of all patients with thyroid cancer younger than 20 years who presented to our center between January 1991 and January 2006 were reviewed. RESULTS: Thirteen patients with papillary thyroid carcinoma (PTC) were identified. No patient had previous exposure to ionizing radiation. The mean age at diagnosis was 14.5 years. There were 8 females; all patients presented with a cervical mass. Ten patients underwent total thyroidectomy and three subtotal thyroidectomy. Eight patients (61.5%) had regional lymph node metastases, only one of whom (7.6%) had lung metastases. All received radioactive "131I" ablation postsurgical excision. Five (38.5%) had recurrences and needed multiple surgeries and/or "131I" ablation. At a median follow-up time of 8.3 years all patients are disease free. CONCLUSION: Pediatric thyroid cancer in Lebanon is a rare tumor that presents mainly as a primary malignancy. The main clinical presentation is a cervical mass with locoregional lymph nodes metastasis. The mainstay of therapy is total thyroidectomy with lymph node dissection when indicated and radioactive "131I" ablation. Despite recurrences the prognosis is excellent.

Leishmaniasis of the auricle mimicking carcinoma.

Leishmaniasis of the auricle has been rarely reported in our region of the world, where it is labeled as "Old World Leishmaniasis." It may mimic other pathologies, such as malignancies or other infectious processes. We present a case of an auricular Leishmania lesion which was first suspected to be a carcinoma. Four previous auricular Old World Leishmania cases have been reported. The epidemiology, clinical presentation, diagnosis, and treatment of this entity are briefly reviewed.

Retrospective study and review of polymorphous low-grade adenocarcinoma.

OBJECTIVES/HYPOTHESIS: We review a single institution's experience with polymorphous low-grade adenocarcinoma. To our knowledge, this is the largest patient series of polymorphous low-grade adenocarcinoma with clinical follow-up in the otolaryngology literature. STUDY DESIGN: We retrospectively identified 19 patients with polymorphous low-grade adenocarcinoma who had adequate clinical follow-up and pathologic specimens available for examination. METHODS: All pathologic materials were reviewed by one head and neck pathologist. RESULTS: The median follow-up was 9.6 years. The most frequently affected sites were the hard palate (12 patients) and soft palate (9 patients). Fifteen patients had their initial treatment at our institution, and four patients presented with a recurrent tumor. Five patients had a local recurrence after surgery; of those patients, two had initially presented with recurrent tumors. Local tumors recurred as late as 15 years after the initial surgery. One patient had regional nodal disease 20 years after the initial procedure, and another had lung metastasis. No patients received chemotherapy. The most common initial diagnoses were polymorphous low-grade adenocarcinoma, adenoid cystic carcinoma, and pleomorphic adenoma. CONCLUSIONS: Polymorphous low-grade adenocarcinoma is an increasingly recognized malignancy that originates predominantly in the minor salivary gland. Our experience confirms good local control after a wide local excision is performed, but local recurrences can occur despite having negative margins after surgery. The delayed local recurrences and regional nodal metastases noted in our series show that prolonged follow-up is needed. This series also reports one of the first pathologically confirmed cases of distant metastasis.

Airway obstruction secondary to thoracic aortic aneurysm leak. A case report.

Retropharyngeal hematoma is a rare entity that has various etiologies. Anticoagulation is believed to be the most common cause. Aortic aneurysm leak was reported as a cause of this disease only once. We believe that our case is the second case of retropharyngeal hematoma caused by a leaking aortic aneurysm. A case discussion and management is presented in this article.

Current management of head and neck schwannomas.

PURPOSE OF REVIEW: The purpose of this review is to discuss the contemporary management of head and neck schwannomas by reviewing the literature and presenting the authors' experience. RECENT FINDINGS: Molecular studies are attempting to link genetic factors to the development of nerve sheath tumors. Many studies emphasize the importance of preserving the nerve of origin, but structural preservation may not necessarily lead to the preservation of its functional integrity. The importance of neural reconstruction and postoperative rehabilitation is also emphasized. SUMMARY: Head and neck schwannomas are uncommon tumors that may affect any peripheral, cranial, or autonomic nerve. This explains their variation in terms of location, clinical presentation, and outcome after surgical resection. History, physical examination, fine needle aspiration, and magnetic resonance imaging are used as diagnostic modalities. Cure entails a complete resection, all attempts being made to preserve the nerve of origin. Otherwise, immediate reconstruction and postoperative rehabilitation should be undertaken in the context of a multidisciplinary management team.

Tracheal myxoma: a rare benign tracheal tumor.

Benign tracheal tumors are rare. We describe a 39-year-old man who underwent resection of a tracheal myxoma, a previously unrecognized benign tracheal neoplasm. He presented with a 9-month history of wheezing, cough, and dyspnea on exertion. Treatment with bronchodilators and corticosteroids administered by inhalation and systemically did not diminish his symptoms. Pulmonary function tests showed a pattern of airflow limitation consistent with variable extrathoracic obstruction. Chest radiography and computed tomography revealed a tracheal mass. Tracheal resection of the tumor with reconstruction was curative. The patient is free of disease 7 years after surgery.