Tuberculosis is a disease of global outreach that may affect the entire human body but is most commonly located in the lungs. Otorhinolaryngological manifestations of tuberculosis are rare, mostly occurring secondary to pulmonary disease but nevertheless represent significant diagnostic challenges. Nasopharyngeal tuberculosis is rare, representing around 1% of all upper air-way localizations and the most common presentation is in the form of adenoids. Tuberculous glossitis (oral tuberculosis) is even scarcer and may present in various clinical forms, usually mimicking a malignant neoplasm, or, less often, trauma or other infectious lesions. Oropharynx tuberculosis is usually misdiagnosed as hypertrophic chronic tonsillitis. We present four rare cases of ENT tuberculosis, primary adenoiditis and tonsillitis in a 13-year-old girl, a curious case of tuberculous glossitis in a 65-year-old woman, clinically diagnosed as a lingual neoplasm and two cases of tuberculous lymphadenopathy uncommonly located in the submandibular and supraclavicular regions. A comprehensive review of literature follows the case presentations. Tuberculous manifestation in the ear, nose and throat area remains a difficult diagnosis to establish, particularly because of its rarity and non-specific clinical appearance, and should be included in the differential diagnosis of pharynx lesions. An early diagnosis is essential to avoid occurrence of complications.
There are a number of benign tumors of the nose and pharynx that are seldomly reported in literature but that can sometimes prove difficult to treat and extremely important for differential diagnosis. The present study presents cases of rare benign tumors localized in the pharynx, nasal and sinus cavities, as well as reviews of literature and historical references for each type of tumor. Unilateral nasal hemangioma in a 72-year-old male which, although not a rare pathology, raised problems due to auto-resection of the tumor. The surgeon was able to pull it out with ease without bleeding; it is possible that the mass would have eventually fallen out. Pilomatrixoma is a relatively uncommon ectodermal benign tumor of the skin derived from hair matrix cells. Surgical resection is curative but recurrence is possible (≤5% risk). The presented case is of a 26-year-old female with a pilomatrixoma of the left cheek who, for aesthetic reasons, refused a classical external surgical approach. Trans-oral resection was performed, which proved feasible but laborious and prone to recurrence. Inverted Schneiderian papilloma is a rare benign tumor of the nasal and sinus cavities with increased potential for invasion, recurrence and malignant transformation compared with other types of papilloma and other benign tumors of the area. The tumor represents 0.5-4.0% of all nasal tumors and has been described under different names, such as villiform cancer and cylindrical/transitional papilloma. The present study reports a rare case of bilateral papilloma in a 68-year-old male. He presented with bilateral evolving nasal obstruction and hyposmia. Following surgery, the patient was treated by a multidisciplinary team and followed by a respiratory rehabilitation program.
Although etiologically heterogeneous at least 50% of all early on-set hearing losses have a genetic cause and of these, the large majority, 75-80% are most probably autosomal recessive and 70% are non-syndromic. The rest of the congenital hearing losses are determined by clinical and environmental factors such as ototoxic medication, prematurity, and complications at birth. During the last decade it became clear that 50-80% of all such afflictions result from mutations in a single gene, GJB2, which encodes the protein Connexin 26. In order to, at least partially clarify this problem, especially in an emerging country such as Romania, where the problem is not studied adequately, we developed a comprehensive study of genetic, clinical and environmental risk factors for congenital hearing loss. The two most common variations of this gene, 35delG and W24X in children with positive diagnosis of bilateral severe to profound sensorineural hearing loss were investigated. A cohort of 34 children (20 female and 14 male), ages between 2 and 10 (mean age 4.62 years), coming from 33 non-related families were evaluated. All cases were diagnosed with severe or profound bilateral congenital SNHL. A statistical comparison of genetic and environmental/clinical prevalence was also attempted since the presence of a genetic disorder cannot rule out the role of other documented risk factors in the etiology of SNHL. The results showed that, 29.4% of cases (10/34) were homozygotic for the 35delG mutation 35delG/35delG), also known as genotype Δ/Δ. 5.88% of cases (2/34) belong to the heterozygotic bi-genic group 35delG/W24X. The clinical factors with high statistical significance for SNHL in a non-genetic group have no significance for genetic SNHL patients. Thus, the present study confirms the relatively high prevalence of the 35delG and W24X mutations in cases of congenital non-syndromic severe of profound bilateral SNHL.
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