Genetic, host, and environmental interactions in a 19 year old with severe chronic obstructive lung disease; observations regarding the pathophysiology of airflow obstruction.

A case of a 19-year-old with severe chronic obstructive pulmonary disease is presented. This case illustrates genetic (severe alpha-1 antitrypsin deficiency) and host factors (such as developmental diaphragmatic hernia and the innate response to injury), and environmental (high oxidative stress and lung injury) interactions that lead to severe chronic obstructive lung disease. The development of chronic lung disease was caused by lung injury under high oxidative and inflammatory conditions in the setting of a diaphragmatic hernia.

Cutaneous sarcoidal granulomas and the development of systemic sarcoidosis.

Studies of patients with systemic sarcoidosis have indicated that those patients with cutaneous lesions have a poorer prognosis with a greater incidence of symptomatic pulmonary and ocular sarcoidosis. We examined 18 patients who had biopsy-proved cutaneous sarcoidosis for evidence of systemic involvement. Of the 13 patients who had no history of previously documented sarcoidosis, six had no evidence of systemic disease on history and physical examination, chest roentgenogram, pulmonary function testing, ocular examination, skin testing, and baseline laboratory testing.