Clinical and treatment course of lung carcinoma from adult-onset recurrent respiratory papillomatosis with lung involvement: A case report.

Neoplasms induced by human papillomavirus (HPV) infection are generally associated to high-risk HPV types. Recurrent respiratory papillomatosis (RRP) is a rare and chronic HPV-related disease characterized by papillomatous lesions in the respiratory tract, usually affecting larynx. RRP rarely comprises malignant transformation since the low-risk HPV-6 and/or HPV-11 are the most commonly found in the disease. We described a case of one adult-onset RRP (29-year-old, female) with HPV-6 infection affecting vocal folds and extra-laryngeal sites. Computed tomographic scan of the chest revealed papillomatosis with pulmonary spread showing multiple nodules and cavities. Lung involvement later progressed to squamous cell carcinoma of the lung. Patient's pregnancy during investigations may have accelerated lung carcinoma development due to immunological changes. Immunohistochemistry revealed PD-L1 high expression in tumor biopsy and, after pregnancy, the oncology treatment included a combination of pembrolizumab (PD-L1 inhibitor) to chemotherapy and also radiotherapy, showing considerable results. Patient died due to lung cancer complications 15 months after cancer diagnosis. RRP management associated with lung involvement and poor prognostic outcome, such as lung carcinoma, is still a big challenge. In this report, we described the clinical and treatment course of RRP progression to highlight the need for attention to future patients.

Laryngeal, Tracheal, and Bronchial Disease in the Mucopolysaccharidoses: Endoscopic Study.

Mucopolysaccharidoses (MPS) are genetically determined diseases, leading to a deficiency of enzymes in the glycosaminoglycan (GAG) degradation pathway. The accumulation of GAG occurs in connective tissue in various organs and systems of the body, including the larynx, trachea, and bronchi. Respiratory symptoms are common and severe in these patients, and respiratory disease is a frequent cause of death. A cross-sectional study with flexible bronchoscopy was conducted in 30 MPS patients (6 MPS I, 8 MPS II, 2 MPS III, 3 MPS IV-A, and 11 MPS VI). Only four patients (13.33%) had a normal airway; nine (30%) had mild to moderate disease, 12 (40%) moderate to severe, and five patients (16.67%) had severe disease. Of particular interest, neuronopathic MPS II had the largest proportion of tracheostomized patients who died due to respiratory complications; in MPS IV-A, all patients had significant tracheobronchial deformity with associated tracheomalacia, despite lacking laryngeal involvement. Laryngotracheobronchial disease (LTBD) was associated to longer disease history and was significantly more severe in older patients. Longer use of enzyme replacement therapy did not prevent the progression of LTBD, although the age of therapy introduction may be a crucial factor in lower airway involvement.

Tracheobronchopathia osteochondroplastica in a 5 year-old girl.

Tracheobronchopathia osteochondroplastica (TO) is considered an orphan disease with exceptional occurrence in children. We report a 5 year old female child who was referred to us with chronic cough and recurrent pneumonia. After several investigations, bronchoscopy showed multiple nodules in the tracheobronchial lumen, whose distribution was consistent with TO. The patient was followed for four years, with no change in the pattern of the disease.