Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) as an example of a rare disease relevant for oto-rhino-laryngology

Diagnosis and treatment of rare diseases are difficult. Hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disorder) is a relatively common rare disease. Because epistaxis is the most frequent manifestation of this disease, affected individuals often approach otorhinolaryngologists first. The latter ones often have a key position for early diagnosis and screening for visceral involvement which can prevent life-threatening complications. Treatment of epistaxis can improve quality of life of affected persons. Diagnosis and treatment of rare diseases can be complex and it can be very helpful to use information resources to ensure a correct management. Various possibilities to access these resources are presented in general and in relation to HHT.     

Pyoderma gangrenosum of the head and neck

Pyoderma gangrenosum is an ulcerative skin disorder usually associated with an underlying systemic disease. Head and neck involvement is rare, but possibly more common than once thought. The etiology of this disease is unclear, but may be related to an abnormal immunologic response. There are no pathognomonic histologic or laboratory findings; the diagnosis is made by the clinical appearance of the lesions and disease course. Treatment consists of immunosuppression and local wound care in addition to a search for and treatment of an underlying primary systemic disorder. A case report and review of the literature is presented with discussion of common head and neck manifestations, the differential diagnosis, and treatment alternatives.     

Adenoid cystic carcinoma of the temporal bone with distant metastases

Malignant tumors of the temporal bone are rare neoplasms. Adenoid cystic carcinoma (ACC) is the most common malignant tumor of minor salivary glands, while a quite rare tumor of the major. It is considered a slow-growing tumor with a course that is characterized by local recurrences and late distant metastases to lungs (80-90%), bone and liver. When metastases occur in bone especially the spine, the course of disease is usually fulminant. Intracranial involvement can occur by direct extension, hematogenous or perineural spread and represents an advanced stage of the disease. In this paper, we present a rare case of temporal bone ACC reporting for the first time simultaneous bony and pulmonary distant metastases. The origin, the pathology, the imaging techniques, the differential diagnosis, the treatment options and the prognosis of these tumors are discussed.     

Rhinofacial zygomycosis caused by conidiobolus coronatus

Fungal infections are common in a tropical country like India. Among the Zygomycosis infections, those caused by Mucorales are more prevalent. However, there exists another order of zygomycetes, the Entomophthorales, which rarely cause clinical disease. We report a rare cause of fungal infection of the maxillo-facial region and the oropharynx in a previously healthly male adult caused by Conidiobolus coronata of the order Entomophthorales to highlight the clinical presentation and treatment of this rare, chronic, indolent form of fungal infection.     

Ectopic olfactory neuroblastoma: report of four cases and a review of the literature

Our objective is to present a short series of four rare cases of ectopic olfactory neuroblastoma. Our methods present four case reports of ectopic olfactory neuroblastoma and a review of the literature for management and treatment of this disease. The results indicate short case series reports of ectopic olfactory neuroblastoma arising from the anterior ethmoidal sinuses, the nasopharynx, the lateral nasal wall and the floor of the nose. The discussion focuses on likely origins of ectopic olfactory neuroblastoma, its clinical features and management. We conclude that ectopic olfactory neuroblastoma is a rare disease. Treatment principles are the same for non-ectopic disease and guided by extension into adjacent structures such as the orbit or anterior cranial fossa and usually involves surgery with or without adjuvant radiotherapy.     

Giant Madelung's disease. Report of a case and review of the literature

Madelung's disease, also known as benign symmetrical lipomatosis, is a rare proliferative disorder of unknown etiology that was first mentioned by Brodie in 1846.Characterized by multiple symmetrical deposits of unencapsulated fat in the head and neck region, the disease is most common in middle-aged men with a history of alcohol abuse. The only effective therapy in cases of dyspnea and dysphagia, indicating the necessity of treatment, is the surgical resection of the adipose tissue.The authors report on the evaluation and therapy in a case of giant Madelung's disease.     

儿童阻塞性睡眠呼吸暂停低通气综合征合并上气道咳嗽综合征的诊断与治疗

儿童阻塞性睡眠呼吸暂停低通气综合征和上气道咳嗽综合征同为上呼吸道疾病,存在较多共同点,目前对二种疾病的认识逐步加深,但二者的相关性以及合并疾病的诊治相关报道和研究少有,故本文将就其流行病学、病因及相关性和诊治做一综述.     

Linfoma T anaplásico de células grandes de pabellón auricular en la infancia

Anaplastic large T-cell lymphoma is a very rare disease in childhood. The most common locations are lymph nodes and skin, while the external ear location is uncommon. We present the case of a 6-year-old child with an earlobe tumour. Surgical treatment was performed and the anatomopathological results showed anaplastic large cell lymphoma. Radiological tests were negative and there was no systemic involvement.     

Hearing loss as the initial presentation of Creutzfeldt-Jakob disease

Creutzfeldt-Jakob disease is a rare type of spongiform encephalopathy. Affected patients present with constitutional symptoms, which progress to severe mental deterioration and movement disorders. Dizziness is the most common early otologic symptom. Few reports in the literature describe patients with Creutzfeldt-Jakob disease who present with sudden-onset hearing loss as their primary symptom for seeking treatment. This paper discusses one such patient and reviews the clinical presentation, treatment options, and relevant literature.     

Choanal atresia: an unusual serious complication of complementary and alternative medical treatment

The use of complementary and alternative medicine (CAM) is common among patients with chronic, long-standing nasal disease. Complications resulting from inappropriate CAM practices are sometimes reported, but serious complications such as choanal atresia and stenosis are rare. We report a case of choanal atresia and stenosis due to herbal drug (ie, chemical) cauterization of the nasal cavity in a 39-year-old man. We reviewed the literature on why patients previously given conventional treatment seek alternative therapies. The patient underwent surgical intervention to relieve choanal atresia and stenosis. The postoperative course was unremarkable, and follow-up for 1 year revealed no evidence of restenosis. Choanal atresia and stenosis resulting from CAM treatment are rare. Otolaryngologists should be aware of possible complications occurring in patients receiving such treatments.     

Coexistence of a pseudolesion and a true lesion in the same location: a rare misleading imaging finding

Congenital cholesteatoma and asymmetric fatty marrow are both common masses that appear as imaging "lesions" in the petrous apex, but their treatment modalities are very different. Accurate preoperative recognition by computed tomography and magnetic resonance imaging is, therefore, important for planning appropriate management strategies. We report a case with coexisting congenital cholesteatoma and asymmetric fatty marrow in the same petrous bone. The 2 lesions were indistinguishable on high-resolution computed tomographic images and were only identified on fat-suppressed magnetic resonance imaging sequences. This is the first report of these 2 lesions coexisting, leading to a rare misleading imaging finding.     

Moyamoya disease complicated by life-threatening epistaxis: first report of a case

OBJECTIVE: Subacute haemorrhage is a common emergency in otorhinolaryngology. Rapid evaluation of the aetiology and localization is a precondition for suitable treatment. We demonstrate a rare case of primarily intractable epistaxis associated with occlusion of the circle of Willis (moyamoya disease). PATIENT: A 38-year-old man presented with a 24-h history of recurrent epistaxis. Anamnesis revealed long-term anticoagulation after heart valve transplantation and arterial hypertension. RESULTS: As a result of several re-bleedings after anterior nasal packing, a re-packing was followed by surgical treatment under general anaesthesia. Four days after discharge the patient presented to the intensive care unit with severe re-bleeding. After removal of a temporary Bellocq packing, interdisciplinary treatment was necessary. Emergency angiography revealed advanced moyamoya disease, with occlusion of both internal carotid arteries. The cerebral blood supply was sustained by an excessive collateral network originating from external carotid anastomoses. This complicated the endovascular treatment, which consisted of embolization of the infraorbital and maxillar arteries with liquid material and coils flanked by Bellocq packing. The patient was doing well at follow-up after 12 months. CONCLUSION: Epistaxis complicating moyamoya disease is rare, and endovascular treatment is difficult due to the high risk of cerebral embolism. Malformations of the cerebral arteries should be considered in the differential diagnosis of intractable epistaxis.     

Extramedullary plasmocytoma of the nasal cavity: a case report

PURPOSE OF STUDY: To establish a diagnosis and therapeutic management in patients with extramedullar plasmocytomas. METHOD: There is no consensus concerning extramedullar plasmocytoma treatment. One patient with a nasal cavity tumor location and a review of literature are reported. RESULTS: Extramedullar plasmocytoma is a rare tumor that occurs most frequently in the upper respiratory tract. The most common location is the nasal cavity. Diagnosis can only be made after histological and immunohistochemical examinations. Localized tumors are treated by radiation therapy, combined or not with surgery. Disseminated diseases are treated by chemotherapy. CONCLUSION: Diagnosis can only be confirmed after the exclusion of a systemic disease (multiple myeloma).     

Primary nasolacrymal tuberculosis diagnosed after dacryocytorhinostomy

Although tuberculosis (TB) is common and well recognized in many countries, unusual presentations of the disease sometimes raise difficulties in differential diagnosis. Primary tuberculosis of the lacrimal sac and the nasolacrimal duct is an extremely rare presentation of extra-pulmonary tuberculosis. Dacryocystorhinostomy alone is not sufficient for the treatment of these patients and an anti-tuberculous therapy has to be added. Here we present a patient with primary tuberculosis, which is limited to the inferior meatus and filled the entire lacrimal sac on the left side. The patient underwent endoscopic dacryocystorhinostomy due to obstruction of the nasolacrimal duct and culture of the granulation tissue, taken from the lacrimal sac revealed mycobacterial tuberculosis. The patient was improved with anti-tuberculous therapy that was added to the surgery. Primary tuberculosis is a rare granulomatous disease of the nasolacrimal system, which should be considered in the differential diagnosis to plan the effective treatment.     

Rare case of unifocal Langerhans cell histiocytosis in four-month-old child

Langerhans cell histiocytosis (LCH) comprises a group of disorders, the common feature of which is Langerhans cell proliferation. The clinical presentation is highly varied. The severity and prognosis of the disease are dependent on the type and extent of organ involvement. This paper reports a rare case of a four-month-old white male with unifocal LCH limited exclusively to the mandible, discussing the diagnosis, radiographic and immunohistochemical aspects, treatment and monitoring multidisciplinary of the case.     

Fibrous dysplasia masquerading as chronic maxillary sinusitis

Fibrous dysplasia is a rare disease of unknown cause that affects one or multiple bones. In its monostotic form, only one bone is involved. The maxilla is the most commonly affected facial bone. Facial deformity with or without pain is the most common presentation of fibrous dysplasia affecting the craniofacial bones. In certain cases the disorder can present clinically as chronic maxillary sinusitis. The clinical, radiologic, and histologic findings, as well as the differential diagnosis and treatment of this condition are reviewed.     

Cutaneous angiosarcoma of the head and neck: a case presentation and review of the literature

Cutaneous angiosarcoma of the head and neck is a rare vascular neoplasm. When it does occur, it is most common in elderly white men. Early diagnosis and treatment are essential for local control of this aggressive tumor but recognition can be delayed because of its rarity or because of difficulty in making a pathologic diagnosis. A combined-modality treatment approach is most often advocated. We report the case of a 77-year-old black man who presented with a 1-month history of two painless, violaceous, subcentimeter nodules of the upper lip. After a diagnosis of low-grade angiosarcoma was definitively established, the lesions were locally excised with good cosmetic and functional results. The patient subsequently was found to have probable metastatic disease, but he declined further intervention. We review the literature on cutaneous angiosarcoma, and we discuss its epidemiology, presentation, tissue diagnosis, treatment, and prognosis in an effort to increase awareness of this rare malignancy.     

The treatment of streptococcal tonsillitis/pharyngitis in young children

Pharyngitis is common in children, accounting for nearly 12 million visits annually in the United States. Streptococcus pyogenes or group A streptococcus (GAS) is the most common bacterial cause of pharyngitis for which antibiotics are indicated. Antibiotic treatment of streptococcal pharyngitis virtually eliminates the presence of bacteria from the pharynx and thus removes the risk of subsequent rheumatic fever. GAS is spread from person to person via respiratory droplets with a short incubation period of 2∼5 days. GAS pharyngitis peaks in the late winter and early spring months when children are predominately indoors for school and sports. Colonization is also higher in winter months, and while up to 20% of school age children are colonized with GAS in their throat during this time, colonization has not been shown to contribute to the spread of disease. In low- and middle-income countries and other situations in which crowding is common (e.g., schools), outbreaks of pharyngitis are common. GAS pharyngitis can occur at all ages and it is most common in school-aged children with a peak at 7∼8 years of age. Pharyngitis caused by GAS is rare in children <3 years of age and becomes much less common in late adolescence through adulthood.     

Otolaryngologic Manifestations of Sarcoidosis: Presentation and Diagnosis

Neuro-otologic manifestations of sarcoidosis are rare. Dizziness in particular is a rare presenting complaint of the patient afflicted with this systemic granulomatous disorder. Head and neck and sinonasal presentations of this disease are more common. We reviewed our experience with six such patients who presented for management of their otolaryngologic (ORL) manifestations in order to delineate the involvement of the otolaryngologist in the treatment and diagnosis of these patients, with a focus upon the relevant tests and procedures in the otolaryngologist's de novo diagnosis of sarcoidosis. Studies ordered in the course of otolaryngologic evaluation and their utility in the diagnosis of sarcoidosis by the otolaryngologist are reviewed and classified into useful, supportive, and ancillary. The otolaryngologist played an important role in diagnosis, with four of six patients diagnosed to have sarcoidosis on the basis of their otolaryngologic presentations. Biopsy was performed by the otolaryngologist for diagnosis of sarcoidosis in all four of these cases. Steroids were central to treatment. Oral steroid therapy was the principal treatment: both patients with neuro-otologic sarcoid were sucessfully managed with oral steroids. Intralesional steroids were necessary to treat the skin lesion. One of six patients patients experienced complications related to steroid use.     

Histiocytosis X: otologic presentations

Histiocytosis X is a relatively rare disease presenting as 3 clinical syndromes: eosinophilic granuloma, Hand-Schuller-Christian disease, and Abt-Letterer-Siwe disease. Although the clinical expressions of the disease differ, the underlying histopathology appears to be the same. Since the disease frequently involves and not infrequently presents in the head and neck region, it is particularly relevant to the otolaryngologist. We have recently treated two young children presenting with bilateral otorrhea. Although histiocytosis X was entertained early in the evaluation of these patients, the diagnosis was difficult and prolonged in both cases. One case ultimately required electron microscopic study to confirm the diagnosis. Important aspects of the diagnosis are reviewed. Treatment of histiocytosis X includes surgery, radiation therapy and chemotherapy. These treatment strategies are discussed, with particular emphasis on the management of the ear involvement.