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1.
J Med Case Rep ; 15(1): 443, 2021 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-34479628

RESUMO

BACKGROUND: Tubulointerstitial nephritis with uveitis syndrome is a rare disease affecting mainly children and young women. Tubulointerstitial nephritis with uveitis is a diagnosis of exclusion, requiring a high degree of clinical suspicion. Studies report recent infections or certain drugs as precipitating factors of a lymphocytic oculorenal immune response. The prognosis is usually favorable with topical and systemic corticosteroid therapy. CASE PRESENTATION: We report a literature review and the case of a 14-year-old white girl, who presented to the ophthalmology department with features of one-sided uveitis. Upon transfer of patient to nephrological care, diagnostic work-up revealed renal involvement. Renal biopsy showed a mixed-cell and granulomatous tubulointerstitial nephritis with some noncaseating granulomas, leading to a diagnosis of tubulointerstitial nephritis with uveitis syndrome. With topical ocular and systemic corticosteroid therapy, the patients' condition improved over several weeks. CONCLUSIONS: Our case highlights the importance of early recognition and treatment of this syndrome, where cross-specialty care typically leads to a favorable outcome.


Assuntos
Nefrite Intersticial , Uveíte , Adolescente , Feminino , Humanos , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/tratamento farmacológico , Doenças Raras , Síndrome , Uveíte/diagnóstico , Uveíte/tratamento farmacológico
3.
Am J Case Rep ; 22: e932869, 2021 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-34475372

RESUMO

BACKGROUND Xanthogranulomatous prostatitis is rare, with no more than 10 to 15 cases reported to date. The presentation typically includes lower urinary tract or lower urinary tract infection symptoms. The present case report describes a 65-year-old man diagnosed with xanthogranulomatous prostatitis after a prolonged course of atypical symptoms. Symptom remission was achieved with low-dose Cymbalta and 6 weeks of ciprofloxacin. CASE REPORT A 65-year-old man had a 1-year history of pelvic floor disorder, including treatment-resistant tenesmus and rectal and perineal pain. The patient eventually developed a reduced urinary steam with urinary retention. On digital rectal examination, his prostate was non-tender and had significant firmness on the left side. Magnetic resonance imaging of the prostate with and without contrast showed a Prostate Imaging-Reporting and Data Stem 5 lesion involving the left peripheral zone of the prostate with diffuse enhancement and low signal throughout the gland. Suspicious adjacent lymphadenopathy also was present. The patient's prostate-specific antigen level was within the normal range at 2.4 ng/mL. All 13 left prostatic biopsy specimens showed acute and chronic inflammatory changes with prominent xanthogranulomatous features and without evidence of necrosis. All of the patient's symptoms, including pain, resolved after he started taking Cymbalta and completed a 6-week course of ciprofloxacin. CONCLUSIONS The present case report describes an atypical presentation of xanthogranulomatous prostatitis, which started with symptoms of pelvic floor disorder that preceded urinary symptoms by at least 1 year. The patient's symptoms improved after he started taking Cymbalta and completed a 6-week course of ciprofloxacin, 500 mg twice daily, and without concurrent treatment with an alpha blocker, corticosteroids, or pelvic floor therapy.


Assuntos
Prostatite , Infecções Urinárias , Idoso , Humanos , Imageamento por Ressonância Magnética , Masculino , Prostatite/diagnóstico , Prostatite/tratamento farmacológico , Doenças Raras
4.
BMJ Case Rep ; 14(9)2021 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-34535495

RESUMO

Primary lymphoedema is a rare disorder. Often presents at a young age with asymptomatic limb oedema with gradual progression. We present a 16-year-old woman who presented with a history of swelling of the left lower limb for 6 years. There was the presence of isolated left lower limb oedema, which was a non-pitting type. The patient underwent imaging studies and was diagnosed to have primary lymphoedema. The patient was managed conservatively as the patient did not have any other problems other than the left lower limb oedema.


Assuntos
Linfedema , Doenças Raras , Adolescente , Feminino , Humanos , Extremidade Inferior , Linfedema/complicações , Linfedema/diagnóstico
5.
BMJ Case Rep ; 14(8)2021 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-34373241

RESUMO

A 59-year-old woman was referred to the emergency room with acute abdominal pain. A CT scan revealed multiple dissections and microaneurysms of the superior mesenteric, the hepatic and the renal arteries. Stenting of the superior mesenteric artery was required. A non-invasive diagnostic procedure was instrumental to establish the diagnosis and guide appropriate treatment, which resulted in a rapid and sustained recovery.


Assuntos
Artéria Mesentérica Superior , Doenças Raras , Dissecação , Feminino , Humanos , Artéria Mesentérica Superior/diagnóstico por imagem , Pessoa de Meia-Idade , Artéria Renal/diagnóstico por imagem , Stents
6.
Medicina (Kaunas) ; 57(7)2021 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-34356962

RESUMO

Gorham-Stout disease is a rare disorder, which may result in a poor prognosis. This disease, a rare lymphangiomatosis, is defined by progressive bone disappearance due to massive unicentric and multicentric osteolysis. Osteolytic lesions of the spine and pleura effusion are poor prognostic factors. Herein, we will present a case where the onset of disease occurred at the age of 18 with asthenia, myalgia, and major bone pain, followed by incomplete motor deficiency in the lower limbs and, later, in the upper limbs. Imaging studies (CT scan and MRI) of the patient revealed osteolytic lesions (cervical and thoracic vertebrae, rib, and clavicle) and a pathological fracture of the C7 vertebra. Surgical procedures undertaken involved replacing the affected vertebrae with bone grafting and prosthesis. The investigations performed allowed for the exclusion of inflammation, thyroid or parathyroid disease, lymphoma, neoplasia, or autoimmune disorders. A bone marrow biopsy showed osteolysis, the replacement of bone tissues with connective tissue, and chronic non-specific inflammation. The evolution was negative with almost complete osteolysis of the left clavicle, the emergence of new osteolysis areas in the lumbar vertebrae, pelvic bones, and the bilateral proximal femur, splenic nodules, chylothorax, and associated major neurological deficits. Unfortunately, this negative evolution resulted in the patient's death a year after onset.


Assuntos
Quilotórax , Osteólise Essencial , Osteólise , Humanos , Osteólise/diagnóstico por imagem , Osteólise Essencial/diagnóstico por imagem , Doenças Raras , Vértebras Torácicas
7.
Laryngorhinootologie ; 100(S 01): S1-S43, 2021 04.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34352899

RESUMO

Despite the low overall prevalence of individual rare diseases, cochlear dysfunction leading to hearing loss represents a symptom in a large proportion. The aim of this work was to provide a clear overview of rare cochlear diseases, taking into account the embryonic development of the cochlea and the systematic presentation of the different disorders. Although rapid biotechnological and bioinformatic advances may facilitate the diagnosis of a rare disease, an interdisciplinary exchange is often required to raise the suspicion of a rare disease. It is important to recognize that the phenotype of rare inner ear diseases can vary greatly not only in non-syndromic but also in syndromic hearing disorders. Finally, it becomes clear that the phenotype of the individual rare diseases cannot be determined exclusively by classical genetics even in monogenetic disorders.


Assuntos
Doenças Cocleares , Perda Auditiva Neurossensorial , Doenças do Labirinto , Cóclea , Humanos , Doenças Raras
8.
AMIA Annu Symp Proc ; 2021: 325-334, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34457147

RESUMO

Rare diseases affect between 25 and 30 million people in the United States, and understanding their epidemiology is critical to focusing research efforts. However, little is known about the prevalence of many rare diseases. Given a lack of automated tools, current methods to identify and collect epidemiological data are managed through manual curation. To accelerate this process systematically, we developed a novel predictive model to programmatically identify epidemiologic studies on rare diseases from PubMed. A long short-term memory recurrent neural network was developed to predict whether a PubMed abstract represents an epidemiologic study. Our model performed well on our validation set (precision = 0.846, recall = 0.937, AUC = 0.967), and obtained satisfying results on the test set. This model thus shows promise to accelerate the pace of epidemiologic data curation in rare diseases and could be extended for use in other types of studies and in other disease domains.


Assuntos
Redes Neurais de Computação , Doenças Raras , Curadoria de Dados , Estudos Epidemiológicos , Humanos , PubMed , Doenças Raras/diagnóstico , Doenças Raras/epidemiologia , Estados Unidos
9.
Unfallchirurg ; 124(9): 755-767, 2021 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-34398278

RESUMO

Congenital pseudarthrosis of the tibia (CPT) is a rare disease that has challenged trauma and orthopedic surgeons for a long time. Clinically CPT mostly presents with progressive varus and antecurvation malformation of the tibia in infancy and childhood. In many cases CPT is associated with neurofibromatosis or fibrous dysplasia. Without knowledge of the clinical picture a discontinuity of the tibia and/or fibula visible on an X­ray can be misinterpreted as a simple fracture. Histopathological investigations have revealed that a pathological alteration of the periosteum in the region of the pseudarthrosis, a hamartoma, may be essentially responsible for this disorder. Consequently, to treat the CPT a resection of the hamartoma must also be carried out. Multimodal treatment approaches combining pharmacological and surgical treatment, such as the cross-union technique of Paley, seem to have improved the prognosis of CPT.


Assuntos
Neurofibromatose 1 , Pseudoartrose , Criança , Fíbula , Humanos , Pseudoartrose/diagnóstico por imagem , Pseudoartrose/cirurgia , Doenças Raras , Tíbia
10.
J Pak Med Assoc ; 71(7): 1893-1896, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34410269

RESUMO

External auditory canal, like other epithelialized surfaces is predisposed to malignancies such as Squamous cell carcinomas (SCC), melanomas and adenocarcinomas. In this background, malignancies like adenoid cystic carcinoma (ACC) are a rare occurrence and need to be thoroughly evaluated both locally and for distant extension. The malignancy needs to be addressed with an aggressive approach surgically with adequate marginal clearance. The role of radiation is debatable considering the outcomes in the limited data. Here we present the case of a 35-year-old female who came in with otalgia and otorrhea associated with a mass in the external auditory canal. After biopsy and imaging, a diagnosis of adenoid cystic carcinoma was made and the patient was managed accordingly.


Assuntos
Carcinoma Adenoide Cístico , Neoplasias da Orelha , Adulto , Carcinoma Adenoide Cístico/diagnóstico por imagem , Carcinoma Adenoide Cístico/cirurgia , Meato Acústico Externo/diagnóstico por imagem , Neoplasias da Orelha/diagnóstico por imagem , Neoplasias da Orelha/cirurgia , Dor de Orelha , Feminino , Humanos , Doenças Raras
11.
Laryngorhinootologie ; 100(S 01): S1-S40, 2021 04.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34352900

RESUMO

The differential diagnosis of vertigo syndromes is a challenging issue, as many - and in particular - rare disorders of the vestibular labyrinth can hide behind the very common symptoms of "vertigo" and "dizziness". The following article presents an overview of those rare disorders of the balance organ that are of special interest for the otorhinolaryngologist dealing with vertigo disorders. For a better orientation, these disorders are categorized as acute (AVS), episodic (EVS) and chronic vestibular syndromes (CVS) according to their clinical presentation. The main focus lies on EVS sorted by their duration and the presence/absence of triggering factors (seconds, no triggers: vestibular paroxysmia, Tumarkin attacks; seconds, sound and pressure induced: "third window" syndromes; seconds to minutes, positional: rare variants and differential diagnoses of benign paroxysmal positional vertigo; hours to days, spontaneous: intralabyrinthine schwannomas, endolymphatic sac tumors, autoimmune disorders of the inner ear). Furthermore, rare causes of AVS (inferior vestibular neuritis, otolith organ specific dysfunction, vascular labyrinthine disorders, acute bilateral vestibulopathy) and CVS (chronic bilateral vestibulopathy) are covered. In each case, special emphasis is laid on the decisive diagnostic test for the identification of the rare disease and "red flags" for potentially dangerous disorders (e. g. labyrinthine infarction/hemorrhage). Thus, this chapter may serve as a clinical companion for the otorhinolaryngologist aiding in the efficient diagnosis and treatment of rare disorders of the vestibular labyrinth.


Assuntos
Doenças Vestibulares , Vestíbulo do Labirinto , Tontura , Humanos , Doenças Raras , Vertigem/diagnóstico , Vertigem/etiologia , Doenças Vestibulares/diagnóstico
12.
Laryngorhinootologie ; 100(S 01): S1-S24, 2021 04.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34352905

RESUMO

Diseases occurring with an incidence of less than 1-10 cases per 10 000 individuals are considered as rare. Currently, between 5 000 and 8 000 rare or orphan diseases are known, every year about 250 rare diseases are newly described. Many of those pathologies concern the head and neck area. In many cases, a long time is required to diagnose an orphan disease. The lives of patients who are affected by those diseases are often determined by medical consultations and inpatient stays. Most orphan diseases are of genetic origin and cannot be cured despite medical progress. However, during the last years, the perception of and the knowledge about rare diseases has increased also due to the fact that publicly available databases have been created and self-help groups have been established which foster the autonomy of affected people. Only recently, innovative technical progress in the field of biogenetics allows individually characterizing the genetic origin of rare diseases in single patients. Based on this, it should be possible in the near future to elaborate tailored treatment concepts for patients suffering from rare diseases in the sense of translational and personalized medicine. This article deals with orphan diseases of the lip, oral cavity, pharynx, and cervical soft tissues depicting these developments. The readers will be provided with a compact overview about selected diseases of these anatomical regions. References to further information for medical staff and affected patients support deeper knowledge and lead to the current state of knowledge in this highly dynamic field.


Assuntos
Faringe , Doenças Raras , Humanos , Incidência , Boca , Medicina de Precisão , Doenças Raras/terapia
13.
Laryngorhinootologie ; 100(S 01): S1-S44, 2021 04.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34352902

RESUMO

Due to their low incidence and thus resulting limited diagnostic criteria as well as therapeutic options, rare diseases of the nose, the paranasal sinuses, and the anterior skull base are a significant challenge. The value as of which a disease has to be considered as rare amounts to a maximum of 5 patients per 10 000 people. Within these diseases, however, there are extreme differences. Some rare or orphan diseases like for example the inverted papilloma belong to regularly diagnosed and treated diseases of larger departments of oto-rhino-laryngology whereas other rare diseases and malformations have only been described in less than 100 case reports worldwide. This fact emphasizes the necessity of bundling the available experience of diagnostics and therapy. The present article gives an overview about rare diseases of the nose, the paranasal sinuses, and the anterior skull base from the field of diseases/syndromes of the olfactory system, malformations of the nose and paranasal sinuses, ventilation and functional disorders as well as benign and malignant tumors. The classification and data on diagnostic and therapeutic options were established based on the current literature.


Assuntos
Neoplasias Nasais , Papiloma Invertido , Neoplasias dos Seios Paranasais , Seios Paranasais , Humanos , Nariz , Neoplasias dos Seios Paranasais/diagnóstico , Neoplasias dos Seios Paranasais/epidemiologia , Neoplasias dos Seios Paranasais/terapia , Seios Paranasais/cirurgia , Doenças Raras/epidemiologia , Doenças Raras/terapia , Base do Crânio
14.
Laryngorhinootologie ; 100(S 01): S1-S79, 2021 04.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34352903

RESUMO

This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space. That is the reason, why both the completeness and the level of detail in the description of particular diseases must be somewhat limited. Nevertheless, clinical manifestations, important aspects of diagnosis, treatment strategies, and, when specific data are available, the prognosis are described. The authors tried to highlight the most characteristic aspects of the different diseases to describe their relevant aspects in spite of the brevity of the subsections.


Assuntos
Doenças Orbitárias , Neoplasias Orbitárias , Humanos , Órbita , Doenças Orbitárias/diagnóstico , Doenças Orbitárias/cirurgia , Neoplasias Orbitárias/diagnóstico , Neoplasias Orbitárias/terapia , Doenças Raras/terapia
15.
Laryngorhinootologie ; 100(S 01): S1-S11, 2021 04.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34352898

RESUMO

Rare diseases pose multiple challenges for patients, relatives, physicians, nursing staff, and therapists. Their rarity impedes research and treatments due to medical and economical reasons. Many diseases in the field otorhinolaryngology, head and neck surgery are rare diseases due to their low prevalence. The initiation of the right management processes requires knowledge about diagnostics, resources like centers, networks and registries, about specifics of the physician-patient relationship, follow-up care including communication with family doctors and the role of self-help groups. Of special interest for university hospitals and our scientific society are the specific aspects of research including European networks and research funding, information management, public relations, education, training, financing, and regulations like orphan drugs and clinical trials in small populations.


Assuntos
Otolaringologia , Médicos , Humanos , Relações Médico-Paciente , Doenças Raras/terapia , Sistema de Registros
16.
Laryngorhinootologie ; 100(S 01): S1-S36, 2021 04.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34352904

RESUMO

This review article covers data on rare diseases of the larynx, the trachea and the thyroid. In particular, congenital malformations, rare manifestations of inflammatory laryngeal disorders, benign and malignant epithelial as well as non-epithelial tumors, laryngeal and tracheal manifestations of general diseases and, finally, thyroid disorders are discussed. The individual chapters contain an overview of the data situation in the literature, the clinical appearance of each disorder, important key points for diagnosis and therapy and a statement on the prognosis of the disease. Finally, the authors indicate on study registers and self-help groups.


Assuntos
Doenças da Laringe , Laringe , Humanos , Doenças da Laringe/diagnóstico , Doenças da Laringe/epidemiologia , Doenças da Laringe/terapia , Doenças Raras/epidemiologia , Doenças Raras/terapia , Glândula Tireoide , Traqueia
17.
Laryngorhinootologie ; 100(S 01): S1-S28, 2021 04.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34352906

RESUMO

Salivary gland diseases are rare. In the European Union (EU) a disease is considered to be rare if not more than 5 of 10,000 people are affected by it. According to estimates in Germany are about 4 million people with a rare disease. In the EU are about 30 million people with rare diseases [1]. In the present work most of the described diseases of salivary glands and of the facial nerve fall in this category. They form a very heterogeneous group whose treatment takes place mainly in specialized centers. Still, it is essential for the otolaryngologist to identify and to diagnose these diseases in order to initiate the right therapeutic steps. The work is a compilation of innate andacquired rare salivary gland disorders and of rare facial nerve disorders. The etiologies of inflammatory diseases, autoimmune disorders and tumors are taken into account. For the individual topics, the current literature, if available, was evaluated and turned into summarized facts. In this context the development of new processes, diagnostics, imaging and therapy are considered. Genetic backgrounds of salivary gland tumors and the trends in the treatment of tumorous lesions of the facial nerve are picked up. Furthermore, also rare diseases of the salivary glands in childhood are described. Some of them can occur in adults as well, but differ in frequency and symptoms. Due to the rarity of these diseases, it is recommended to tread these in centers with special expertise for it. Finally, the difficulties of initiation of studies and the problems of establishing disease registries concerning salivary gland disorders are discussed. This is very relevant because these pathologies are comparatively seldom.


Assuntos
Doenças das Glândulas Salivares , Neoplasias das Glândulas Salivares , Adulto , Nervo Facial , Humanos , Doenças Raras/terapia , Doenças das Glândulas Salivares/diagnóstico , Doenças das Glândulas Salivares/epidemiologia , Doenças das Glândulas Salivares/terapia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/epidemiologia , Neoplasias das Glândulas Salivares/terapia , Glândulas Salivares
18.
Int J Mol Sci ; 22(15)2021 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-34360713

RESUMO

Rare central nervous system (CNS) tumours represent a unique challenge. Given the difficulty of conducting dedicated clinical trials, there is a lack of therapies for these tumours supported by high quality evidence, and knowledge regarding the impact of standard treatments (i.e., surgery, radiotherapy or chemotherapy) is commonly based on retrospective studies. Recently, new molecular techniques have led to the discovery of actionable molecular alterations. The aim of this article is to review recent progress in the molecular understanding of and therapeutic options for rare brain tumours, both in children and adults. We will discuss options such as targeting the mechanistic target of rapamycin (mTOR) pathway in subependymal giant cells astrocytomas (SEGAs) of tuberous sclerosis and BRAF V600E mutation in rare glial (pleomorphic xanthoastrocytomas) or glioneuronal (gangliogliomas) tumours, which are a model of how specific molecular treatments can also favourably impact neurological symptoms (such as seizures) and quality of life. Moreover, we will discuss initial experiences in targeting new molecular alterations in gliomas, such as isocitrate dehydrogenase (IDH) mutations and neurotrophic tyrosine receptor kinase (NTRK) fusions, and in medulloblastomas such as the sonic hedgehog (SHH) pathway.


Assuntos
Neoplasias Encefálicas , Terapia de Alvo Molecular , Mutação , Proteínas de Neoplasias , Doenças Raras , Transdução de Sinais , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/terapia , Humanos , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Doenças Raras/genética , Doenças Raras/metabolismo , Doenças Raras/terapia
19.
Medicine (Baltimore) ; 100(32): e26906, 2021 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-34397923

RESUMO

RATIONALE: Mucinous cystadenoma is a benign tumor that is commonly found in the pancreas, ovaries, or appendix, but is rarely encountered in the lungs. Worldwide, only a few reported cases of these tumors originate in the lungs. Herein, we analyzed the imaging features of a case of pulmonary mucinous cystadenoma (PMCA). To the best of our knowledge, this is the first reported case of PMCA complicated by significant infection. PATIENT CONCERNS: A 57-year-old man was admitted to our hospital with blood in sputum for more than 2 months. Serum laboratory examination showed significantly elevated leukocyte and tumor marker, carcinoembryonic antigen. Enhanced thoracic computed tomography and whole-body positron emission tomography/computed tomography showed a cystic-solid ill-defined mass in the right upper lung. DIAGNOSIS: The tumor was considered malignant, both clinically and radiologically. INTERVENTIONS: The patient underwent right upper lobe tumor resection and mediastinal lymph node dissection. OUTCOMES: Postoperative specimen pathology was diagnosed as PMCA with infection. The patient was not administered any further treatment. The patient was alive without any recurrence or metastasis of the tumor after 2 years of follow-up. LESSONS: Preoperative diagnosis of PMCA with atypical imaging and clinical manifestations is extremely difficult. This is the first reported case of PMCA complicated by a significant infection that was misdiagnosed preoperatively as a malignancy.


Assuntos
Cistadenoma Mucinoso/diagnóstico , Neoplasias Pulmonares/diagnóstico , Pulmão/diagnóstico por imagem , Pneumonia Bacteriana/diagnóstico , Cistadenoma Mucinoso/complicações , Feminino , Humanos , Neoplasias Pulmonares/complicações , Masculino , Pessoa de Meia-Idade , Pneumonia Bacteriana/complicações , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Doenças Raras , Tomografia Computadorizada por Raios X
20.
Laryngorhinootologie ; 100(S 01): S1-S30, 2021 04.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34352901

RESUMO

Otalgia, otorrhea and hearing loss are the most common ear-related symptoms that lead to the consultation of an otolaryngologist. Furthermore, balance disorders and affections of the cranial nerve function may play a role in the consultation. In large academic centres, but also in primary care, the identification of rare diseases of the middle ear and the lateral skull base is essential, as these diseases often require interdisciplinary approaches to establish the correct diagnosis and to initiate safe and adequate treatments. This review provides an overview of rare bone, neoplastic, haematological, autoimmunological and infectious disorders as well as malformations that may manifest in the middle ear and the lateral skull base. Knowledge of rare disorders is an essential factor ensuring the quality of patient care, in particular surgical procedures. Notably, in untypical, complicated, and prolonged disease courses, rare differential diagnoses need to be considered.


Assuntos
Perda Auditiva , Doenças Raras , Orelha Média , Dor de Orelha , Humanos , Doenças Raras/diagnóstico , Doenças Raras/terapia , Base do Crânio/cirurgia
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