The Inherited Pneumothorax

Abstract

SESSION TITLE: Sarcoidosis and Cystic Lung Disease SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: Birt-Hogg-Dubé (BHD) syndrome is a rare, autosomal dominant pulmonary-cutaneous disorder that affects roughly 200 families worldwide. It is characterized by cutaneous fibrofolliculomas, recurrent pneumothoraces, pulmonary cysts and a predisposition for bilateral renal cancer. Due to varying manifestations, this under-recognized disease warrants our consideration. Here, we present a case of BHD syndrome with recurrent pneumothoraces and distinct cutaneous manifestations. CASE PRESENTATION: A 59-year-old female with family history for lung cysts and renal cancer was referred to pulmonary clinic after multiple hospitalizations for acute dyspnea. Patient had recurrent spontaneous pneumothoraces over four months requiring thoracostomy tubes and surveillance. Physical examination was significant for tachypnea, decreased right-sided breath sounds, hyperresonance to percussion, and small dome-shaped papules on face. Chest X-ray revealed chronic interstitial changes with a large right-sided pneumothorax. CT chest post thoracostomy therapy showed residual small right hydropneumothorax with paraseptal emphysematous changes within both lungs. Skin biopsies of papular lesions confirmed fibrofolliculomas, which prompted genetic analysis unveiling FLCN gene mutation. Upon follow-up, patient was advised to undergo pleurodesis, avoid smoking, air travel and scuba diving, and has been under close surveillance for associated malignancies. DISCUSSION: The combination of recurrent spontaneous pneumothoraces and fibrofolliculomas distinguish BHD syndrome from other cystic lung diseases. The basilar predominance of cysts is different from those of other cystic lung diseases. Earlier intervention with pleurodesis may reduce recurrence of pneumothorax. (1) The differential includes Marfan syndrome, Ehlers-Danlos syndrome, Cutis laxa, Lymphangioleiomyomatosis, Brooke-Spigler syndrome and Langerhan cell histiocytosis. Fibrofolliculomas are skin lesions that consist of hair follicle epithelium and mesenchyme. They appear as 2-4 mm waxy, white, dome-shaped papules involving the head and neck for which skin biopsy is the standard for diagnosis. (2) The risk of renal cancer requires routine surveillance with magnetic resonance imaging. CONCLUSIONS: Birt-Hogg Dubé syndrome represents a rare inherited constellation of skin, lung and kidney manifestations distinguished by fibrofolliculomas. The diagnosis demands genetic counseling, chromosomal analysis, lifestyle modifications, management of pneumothoraces, and evaluation for various malignancies. This case highlights the importance of a thorough physical examination and multidisciplinary team approach. Reference #1: Gupta N, Seyama K, McCormack F. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial Cancer. 2013;12(3):387-396. doi:10.1007/s10689-013-9660-9. Reference #2: Butnor K, Guinee D. Pleuropulmonary Pathology of Birt-Hogg-Dubé Syndrome. The American Journal of Surgical Pathology. 2006;30(3):395-399. doi:10.1097/01.pas.0000183571.17011.06. DISCLOSURE: The following authors have nothing to disclose: Sachin Patel, Latrisha Wright, Simha Jagadeesh, Muhanad Hasan No Product/Research Disclosure Information