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Pachydermoperiostosis (PDP) is a rare genetic disorder that affects both bones and skin. [1] Other names are primary hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome. [2]
Restrictive lung diseases are a category of extrapulmonary, pleural, or parenchymal respiratory diseases that restrict lung expansion, [2] resulting in a decreased lung volume, an increased work of breathing, and inadequate ventilation and/or oxygenation. Pulmonary function test demonstrates a decrease in the forced vital capacity.
It may occur when an injury to the lungs triggers an abnormal healing response. Ordinarily, the body generates just the right amount of tissue to repair damage, but in interstitial lung disease, the repair process is disrupted, and the tissue around the air sacs (alveoli) becomes scarred and thickened.
The cause is unknown, but it may be due to an abnormal immune response. [2] Risk factors include family history, certain genetic factors, and exposure to silica . [ 3 ] [ 4 ] [ 5 ] The underlying mechanism involves the abnormal growth of connective tissue , which is believed to be the result of the immune system attacking healthy tissues. [ 6 ]
Abnormalities on abdominal imaging, such as renal AML and enlarged lymphatic structures, are also common in LAM. Fat density within a renal mass is pathognomonic of AMLs. AMLs are more prevalent and more frequently bilateral and large in patients with TSC-LAM than in patients with S-LAM.
Necrotizing pneumonia (NP), also known as cavitary pneumonia or cavitatory necrosis, is a rare but severe complication of lung parenchymal infection. [1] [2] [3] In necrotizing pneumonia, there is a substantial liquefaction following death of the lung tissue, which may lead to gangrene formation in the lung.
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
Reduced life expectancy Maroteaux–Lamy syndrome , or Mucopolysaccharidosis Type VI (MPS-VI) , is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [ 3 ] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).