Although these conditions are rare, a proportion of patients with interstitial lung diseases
(ILDs) may develop a progressive-fibrosing phenotype. Progressive fibrosis is associated …

Pulmonary fibrosis is the end stage of many diffuse parenchymal lung diseases. It is
characterised by excessive matrix formation leading to destruction of the normal lung …

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the
formation of exostoses, which are cartilage‐capped bony protuberances mainly located on …

Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode
of inheritance. Radiologically, it is characterized by a generalized hyperostosis and sclerosis …

Background: This guideline addresses the diagnosis of hypersensitivity pneumonitis (HP). It
represents a collaborative effort among the American Thoracic Society, Japanese …

Background The major reasons to treat sarcoidosis are to lower the morbidity and mortality
risk or to improve quality of life (QoL). The indication for treatment varies depending on …

Background The INBUILD trial investigated the efficacy and safety of nintedanib versus
placebo in patients with progressive fibrosing interstitial lung diseases (ILDs) other than …

Paget's disease of bone (PDB) is a common disorder characterized by focal abnormalities of
increased and disorganized bone turnover. Genetic factors are important in the …

Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found
in as many as 50% of subjects with autosomal recessive, nonsyndromic prelingual hearing …

Rationale: Nintedanib and pirfenidone slow the progression of idiopathic pulmonary fibrosis
(IPF), but the disease continues to progress. More data are needed on the safety and …