Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of Birt-Hogg-Dubé (BHD) syndrome, specifically focusing on pulmonary manifestations. History significant for recurrent spontaneous pneumothorax (RSP) and/or pulmonary cysts. Review of systems includes assessment for dyspnea, pleuritic chest pain, and family history of BHD, renal cell carcinoma, or fibrofolliculomas.
Clinical Examination Findings
Pulmonary exam: Auscultation reveals clear breath sounds bilaterally; no wheezing, rhonchi, or rales. Chest wall symmetry noted. Dermatological exam: Inspection for multiple facial or truncal fibrofolliculomas or acrochordons. General: Patient is in no acute distress.
Treatment Protocol
Management plan: Serial high-resolution computed tomography (HRCT) monitoring for progression of pulmonary cysts. Smoking cessation counseling is mandatory. Avoidance of activities associated with high barometric pressure changes (e.g., scuba diving) due to pneumothorax risk. Referral to nephrology for renal surveillance and dermatology for skin lesion management.