Dyskeratosis congenita is a rare inherited disorder of ectodermal dysplasia characterised by the classical mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and leucoplakia, 1-3 at least one of which is present in around 80% to 90% of cases of dyskeratosis congenita. The primary causes of death in patients with dyskeratosis congenita are bone marrow failure and immunodeficiency (60%-70%), pulmonary complications (10%-15%), and malignancy (10%). 4 The present case is being reported because of its extreme rarity in incidence as well as presentation.
Primary tracheal tumours are relatively rare and are usually malignant (80%-90%) in adults 1 and benign (60%-70%) in children. 2 These make up only about 2% of all tumours that arise from the upper airways. Most of the tracheal tumours are squamous cell carcinomas or adenoid cystic carcinomas. Inflammatory myofibroblastic tumour (IMT) is rare constituting 0.04%-0.07% of all respiratory tract tumours and usually presents in children under 16 years of age. 3 As patients with tracheal tumours initially present with non-specific respiratory symptoms, definitive diagnosis is often delayed. Chest computed tomography is an important imaging modality to diagnose and stage patients with suspected tracheal neoplasms. Bronchoscopy is essential to make histopathological diagnosis. Persistent or progressive local disease can cause complications, like haemorrhage, tracheal stenosis, or oesophageal-tracheal fistula.
case reportA 43-year-old female with no known co-morbidities, presented with dyspnoea and episodes of haemoptysis since preceding 8-9 months. She was being treated symptomatically before reporting to us. At presentation, stridor was the only abnormal finding on physical examination. She was unable to perform pulmonary function testing because of respiratory distress. Laboratory investigations were normal. Chest radiograph was normal. Thereafter, computed tomography (CT) of the chest was done which revealed endotracheal mass obliterating the lumen of the trachea (Figures 1A & B).
Rapidly vanishing lung pseudotumor (phantom tumor) refers to the transient well-demarcated accumulation of pleural fluid in the interlobar pulmonary fissures. Most frequently their appearance is associated with congestive heart failure, but also other disorders like hypoalbuminemia, renal insufficiency or pleuritis. Its rapid disappearance in response to the treatment of the underlying disorder is a classical feature of this clinical entity. We report a case of 45 year old male who presented with breathlessness and on radiological examination was found to have fluid in horizontal fissure which resorbed with appropriate treatment.
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