Tuberous sclerosis: a survey in the canton of Vaud, Switzerland.

Aim Of The Study: Tuberous sclerosis complex (TSC) is a genetic and multisystemic disorder that affects between 1/6'000 and 1/10'000 of newborns. Clinical criteria and/or genetic analysis establish the diagnosis. The mechanistic target of rapamycin (mTOR) inhibitors everolimus or sirolimus reduce the severity of several TSC-related clinical traits.

Lung function in adult patients with osteogenesis imperfecta: a cohort study.

Background: Osteogenesis imperfecta (OI) is a rare hereditary bone disease resulting from a defect in collagen synthesis or processing, leading to bone fragility, frequent fractures and skeletal deformities. OI is associated with increased respiratory morbidity and mortality, but the mechanisms of lung involvement are poorly understood, and there are no data on the natural history of lung function. We studied lung function over time in a cohort of adult OI patients at one center.

Phenotypes and outcome of diffuse pulmonary non-amyloid light chain deposition disease.

Background: Light chain deposition disease (LCDD) is a very rare entity. Clinical manifestations of LCDD vary according to the organs involved. Data on pulmonary LCDD are scarce and limited to small series or case reports.

[Spontaneous pneumothorax: new concepts and current management].

Spontaneous pneumothorax is a classical medical condition encountered in emergency centers, and by primary care and respiratory physicians. The traditional distinction between primary and secondary pneumothorax, although old and increasingly blurred, still allows to guide initial management and to determine whether pleurodesis is indicated. In case of spontaneous pneumothorax, a targeted family history is essential because it can suggest the presence of a genetic syndrome as the underlying cause of the pneumothorax, a condition often associated with a high risk of pneumothorax recurrence, and the occurrence of extrathoracic manifestations which may be serious if recognized late.

Probability of sporadic lymphangioleiomyomatosis in women presenting with spontaneous pneumothorax.

Background: Sporadic lymphangioleiomyomatosis (S-LAM) is a rare low-grade neoplasm of young women characterized by multiple pulmonary cysts leading to progressive dyspnea and recurrent spontaneous pneumothorax (SP). The diagnosis of S-LAM may be delayed by several years. To reduce this delay, chest computed tomography (CT) screening has been proposed to uncover cystic lung disease in women presenting with SP.