1/9. A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity.A four-month-old male infant with basal encephalocele of the transsphenoidal type presented with upper airway obstruction and facial midline deformity, including cleft lip, cleft palate, hypertelorism and exophthalmos. Basal encephalocele is a rare disease, and usually not detectable from the outside. In this case, initially the cause of an upper airway obstruction was considered to be posterior rhinostenosis, and posterior rhinoplasty with inferior nasal conchectomy was scheduled. However, in preoperative examination, computed tomography (CT) and magnetic resonance imaging (MRI) revealed a bony defect in the sphenoidal bone and a cystic mass in communication with cerebrospinal fluid, herniating into the nasal cavity through the bony defect. The mass was diagnosed as a transsphenoidal encephalocele, the scheduled operation cancelled, and tracheostomy performed for airway management. The possibility of basal encephalocele should be considered in the case of upper airway obstruction with facial midline deformity.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/9. Nodular amyloidosis: case report and literature review.BACKGROUND: amyloidosis refers to a group of depositional diseases that are classified into two main types: systemic and localized. Large nodules of localized cutaneous amyloidosis of the nasal ala and surrounding skin are rare and the treatment is often unsatisfactory. OBJECTIVE: We report a case of rapidly enlarging, localized, nodular cutaneous amyloidosis of the nose and the surrounding skin with a brief review of the current literature regarding treatment of this rare disease. CONCLUSION: Nodular amyloidosis can be treated successfully with cold steel excision in combination with carbon dioxide laser. Close followup of these patients is warranted, as nodular amyloidosis may be the precursor to systemic amyloidosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/9. Sinonasal tuberculosis associated with osteomyelitis of the ethmoid bone and cervical lymphadenopathy.Sinonasal tuberculosis is a rare disease; its association with osteomyelitis of surrounding bone and cervical lymphadenopathy has been reported rarely. In this article, we report a case of sinonasal tuberculosis that was complicated by osteomyelitis of the ethmoid bone and cervical lymphadenopathy. infection of the bone was demonstrated by biopsy and (99m)Tc-MDP bone single photon emission computed tomography (SPECT), and cervical lymphadenopathy was confirmed by histology. This case will be discussed with specific emphasis on the imaging characteristics.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/9. Eosinophilic angiocentric fibrosis.Eosinophilic angiocentric fibrosis (EAF) is a rare disease of the sinonasal tract, with histologic characteristic features like thick collagen bundles whirling around vessels in a fibrotic stroma with inflammatory cells rich in eosinophils. The Authors present a case of a 31-year-old man with bilateral nasal obstruction with no history of allergies or other systemic disease. The patient underwent a septoplasty with symptoms relieving. An EAF diagnosis was made. Differential diagnosis must rule out other lesions that may mimic EAF such as granuloma faciale, Kimura disease, wegener granulomatosis, churg-strauss syndrome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/9. Primary localized amyloidosis of the nose and paranasal sinuses. A case report with immunohistochemical observations and a review of the literature.Primary localized amyloidosis of the nose and nasopharynx is a rare disease. We present a case and review seven additional cases from the English literature. The ages of the patients ranged from 8 to 86 years; there was no sex predominance. Symptoms were nasal obstruction, epistaxis, and impaired hearing. physical examination revealed a nasal mass or glue ears. The lesions were composed of amyloid and chronic inflammatory cells, mainly plasma cells. Ours is the first case of nasal amyloidosis in which the type of amyloid was determined immunohistochemically to be amyloid light chain (AL) lambda. The main treatment was surgical. Recurrences developed. Determination of the biochemical nature of this amyloid clarified its pathogenesis and may influence treatment. amyloidosis should be considered in the differential diagnosis of nasal obstruction, epistaxis, and glue ears, even in the pediatric age group.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/9. radiotherapy of polymorphic reticulosis.The term "lethal mid-line granuloma" does not properly reflect current knowledge that several different diseases can produce non-infectious mid-facial destruction. The disorders producing erosion of the upper aerodigestive passages are more accurately classified by clinical and histological criteria as either Wegener's or non-Wegener's causes. The non-Wegener's causes of mid-facial erosion include extranodal lymphoma, idiopathic mid-line granuloma and polymorphic reticulosis. Polymorphic reticulosis (PR) is a rare disease which is histologically identical to lymphomatoid granulomatosis (LG). The term PR has been used to describe LG localized to the upper airways. PR-LG is characterized by a remarkably polymorphic angiocentric mixed cellular infiltrate. The disease is locally invasive, has the potential for distant spread, and can cause fever, sweats and weight loss. When it is localized to the upper airways, PR-LG is potentially controllable by radiation therapy. Local symptoms at other body sites can be successfully palliated by radiation. The clinical presentation of two recent patients with PR-LG is summarized, as well as the radiotherapy employed. The pertinent literature is reviewed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/9. Cerebral aspergillosis in immunologically competent patients.aspergillosis of the central nervous system is a rare disease, especially if the patient's immune system is not compromised. The authors report three cases of cerebral aspergillosis in the immunocompetent state: a rhinocerebral form in a diabetic patient, a direct extension from chronic aspergillus otitis media, and a postoperative aspergillus brain abscess after brain tumor surgery. In spite of the poor prognosis of cerebral aspergillosis, two of the patients survived. The pathogenesis, predisposing factors, radiologic findings including magnetic resonance image, and the outcome are presented. The pertinent literature of cerebral aspergillosis is also reviewed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/9. Rhinoentomophthoromycosis. Report of two cases.Two cases of rhinoentomophthoromycosis are presented. This rare disease can produce progressive deformity of the nose and facial structures. A review of the clinical symptoms along with its diagnosis and treatment is described.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/9. ENT manifestations of relapsing polychondritis.Relapsing polychondritis is a rare disease probably of auto-immune etiology comprising inflammatory involvement of cartilage as well as phenomena of vasculitis. ENT manifestations are frequent and the authors present a case involving chondritis of the auricle, the nasal septum and affecting the cochleo-vestibular system as well. The diagnosis is based on the evocative clinical picture and on histological confirmation. Treatment consists of corticosteroids and immunosuppressive agents.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |