Bullous lung disease and neurofibromatosis type-1

Bullous lung disease or bullous emphysema?

Bullous lung disease is an entity characterized by the presence of bullae in one or both the lung fields, with normal intervening lung.1,2 On the other hand, bullous emphysema is the presence of bullae in a patient with chronic obstructive pulmonary disease (COPD), and is characterized by the presence of centrilobular emphysema in the nonbullous lung.3–5 To select patients who are more likely t...

Bullous Lung Disease

A 34-year-old black man presented to the emergency department with right-sided pleuritic chest pain, productive cough, low grade fever, and dyspnea. He had a history of emphysema, deep vein thrombosis, protein C and S deficiency, and inferior vena cava filter. His physical exam was significant for fever, tachypnea, tachycardia, and decreased breath sounds over the right upper and middle lung fi...

Neurofibromatosis, type 1 (von Recklinghausen disease).

Type 1 neurofibromatosis (von Recklinghausen disease).

Type 1 neurofibromatosis (NF1), or von 
Recklinghausen disease, is a genetic disorder that is well known for its clinical features. 
Effective treatment modalities for NF1 have not yet been established. The advent of new treatment options for NF1 such as topical vitamin D3 analogues, lovastatin, rapamycin (or sirolimus), and imatinib mesylate has added new dimensions that require further invest...

[Neurofibromatosis type 1 or Von Recklinghausen's disease].

OBJECTIVES Neurofibromatosis 1(NF1) is one of the most common genetic diseases. NF1 is an autosomal dominant genetic disorder and half of affected individuals have NF1 as the result of a new gene NF1 mutation. The offspring of an affected individual have a 50% risk of inheriting the altered NF1 gene. The disease manifestations are extremely variable, even within a family. NF1 is characterized b...