INTRODUCTION: Primary spontaneous pneumothorax is a common condition often occurring in tall individuals and smokers. Familial primary spontaneous pneumothorax is a rare occurrence often associated with autosomal dominant inheritance and other organ system involvement.
CASE PRESENTATION: 63 year old female previously in good health presented to the emergency department with complaint of chest pain and shortness of breath. Vital signs were with in normal range with temperature 98.9 degrees Fahrenheit, heart rate 84 beats per minute, respiration 18 breaths per minute, blood pressure 120 mmHg systolic over 70 mmHg diastolic. Pulse oxymetry was 96 percent on room air. Patient was a non smoker, employed as a teacher. Physical examination demonstrated normal S1 and S2 heart sounds with regular rate and rhythm, lung sounds were diminished on the right as compared to the left side. Neurological exam was grossly normal; extremities did not show clubbing, cyanosis or edema. Laboratory evaluation revealed no abnormalities with complete blood count, serial cardiac enzymes or complete metabolic panel. Electrocardiography showed normal sinus rhythm with no underlying pathology. Chest roentgenography postero-anterior view unveiled a large right pneumothorax. Further questioning into past medical and family history established that patient has a daughter and a first cousin both of whom experienced primary spontaneous pneumothorax. In addition genetic testing prompted by occurrence of spontaneous pneumothorax in daughter and first cousin confirmed diagnosis of Birt Hogg Dube syndrome. An autosomal dominant gene responsible for transmission of BHD syndrome was mapped to chromosome 17.
DISCUSSIONS: In 1977 three Canadian physicians, Birt, Hogg and Dube described benign skin lesions, fibrofolliculomas, in members of one family. Multiple or bilateral renal carcinomas, pulmonary cysts and spontaneous pneumothoraces have been reported as manifestations of BHD syndrome. The autosomal dominant inheritance has been identified and mapped to chromosome 17 P11.2. BHD syndrome is an uncommon condition in the world and USA. It is an important consideration in any patient with primary spontaneous pneumothorax and familial history of such. Screening with renal ultrasound, Computed Tomography of chest, abdomen and pelvis is considered to prevent complications. Patient described above was treated with chest tube placement, experienced noted improvement of her pneumothorax as seen on the follow up chest radiograph. Talc pleurodesis procedure was performed to prevent recurrence of spontaneous pneumothorax on right side. Computed Tomography of chest and mediastinum revealed multiple pulmonary cysts and bullae diffuse through lung fields. Patient tolerated pleurodesis procedure well without unexpected complications. Upon discharge she was given instructions to avoid altitude climbing, and unnecessary valsalva like maneuvers. Follow up appointment to pulmonary care specialist was made.
CONCLUSION: This clinical synopsis illustrates a rare genetic disorder that may pose a medical quandary for primary care provider as well as for a consulting specialist. The rare entity of familial spontaneous pneumothorax most commonly carries an autosomal dominant inheritance which is associated with multiple organ involvement. In the case of Birt Hogg Dube screening for renal cancer, testing of relatives for affected genotype and counseling of offspring should be provided.
DISCLOSURE: Alexander Shalshin, None.