[Respiratory manifestations of Ehlers-Danlos syndromes]. / Manifestations respiratoires des syndromes d'Ehlers-Danlos.

Ehlers-Danlos syndromes (EDS) represent a heterogeneous group of heritable connective tissue disorders characterized by the clinical "triad" consisting in joint hypermobility, skin hyperextensibility and tissue fragility. Respiratory manifestations associated with EDS are frequent and variable. They vary mainly according to the type of EDS. In hypermobile and classical EDS, the most frequent non-vascular types, dyspnea is a common symptom. Its etiologies are wide-ranging and can coexist in the same patient: asthma, respiratory muscle weakness, chest wall abnormalities, upper and lower airway collapse. The prevalence of obstructive sleep apnea syndrome in nvEDS is high. Identification of the relevant dyspnea mechanism is essential to providing appropriate therapeutic measures. In vascular EDS (vEDS), the main pulmonary complications are pneumothorax, hemothorax and hemoptysis. As they frequently precede the diagnosis of vEDS by several years, it is imperative to raise the possibility of vEDS in a young patient with spontaneous pneumothorax or hemothorax. The presence of suggestive computed tomography parenchymal abnormalities (emphysema, clusters of calcified nodules, cavitated nodule) can be an aid to diagnosis. Treatment is based on the usual approaches, which must be carried out with caution by an experienced operator fully informed of the diagnosis. Better knowledge of respiratory manifestations of EDS by the pneumological community would improve patient care and pave the way for further research.

[Pulmonary fibrosis associated with hereditary fibrosing poikiloderma caused by FAM111B mutation: A case report]. / Fibrose pulmonaire au cours de la poïkilodermie héréditaire sclérosante associée à la mutation du gène FAM111B : à propos d'un cas.

INTRODUCTION: Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) is a recently described, extremely rare, entity belonging to the spectrum of inherited poikilodermas. It is provoked by a mutation of the FAM111B gene. Respiratory involvement has never been fully described but usually involves a restrictive respiratory pattern. We present here a case of pulmonary fibrosis associated with POIKTMP and describe the clinical, functional, radiological and evolutionary characteristics. OBSERVATION: A 38 year-old patient with poikiloderma diagnosed in childhood was referred on account of dyspnoea. Initial evaluation showed a diffuse, fibrosing, interstitial pneumonitis with upper lobe predominance, associated with severe muscular involvement on imaging that remained sub-clinical during the evolution of the disease. Lung function impairment was severe and a rapid worsening of the pulmonary fibrosis and an acute exacerbation led to death after a follow-up of 21 months. CONCLUSION: This case illustrates the fibrosing pulmonary involvement associated with POIKTMP and confirms its extreme severity. It is found only in adults and is universally fatal after a variable time. It highlights the necessity for a systematic screening as soon as the diagnosis of POIKTMP is confirmed in order to establish specialised respiratory management.

[Inhaled treatments: Choice of devices, systemic absorption of inhaled drugs and bitter taste receptors in the respiratory tract]. / Traitements inhalés : critères de choix des dispositifs, absorption systémique des médicaments par voie inhalée et récepteurs pulmonaires à l'amertume.

Inhaled drugs are now routinely prescribed in daily medical practice. Recent topics about these treatments have been developed during the fourth annual meeting of the Groupe de travail aérosolthérapie (GAT) of the French-speaking respiratory society (Société de pneumologie de langue française). This article focuses mainly upon the choice of devices, systemic absorption of inhaled drugs and bitter taste receptors in the respiratory tract, a potential new target for drug development.