SHM Converge Scientific Abstract ePoster Gallery-Spontaneous Pneumothorax and Renal Carcinoma: A Case of Birt-Hogg-Dube Syndrome

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This case report highlights Birt-Hogg-Dubé syndrome (BHDS), a rare autosomal dominant disorder caused by mutations in the FLCN tumor suppressor gene on chromosome 17. BHDS is associated with cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and an increased risk of renal carcinoma.<br /><br />The authors present a 49-year-old Caucasian man who came to the hospital with sudden pleuritic chest pain. Physical examination revealed cutaneous lesions on the head and neck, while his vital signs were stable and he had no major abnormal lung or cardiac findings. CT imaging of the chest showed a small left pneumothorax along with emphysematous lungs, scattered atelectasis, and bilateral ground-glass opacities. CT of the abdomen and pelvis found a simple 2.2 cm cyst in the right kidney.<br /><br />The report emphasizes that BHDS is likely underdiagnosed because it is rare and unfamiliar to many clinicians, with only about 400 families identified worldwide. The most serious complication is renal carcinoma, with a reported morbidity risk of 27–34% in Caucasian populations. Early recognition is important because prognosis depends heavily on surveillance and timely detection of renal tumors.<br /><br />Management may include treatment for pneumothorax, laser ablation of fibrofolliculomas, and nephrectomy in severe renal cancer cases. The authors recommend genetic testing and counseling, dermatologic follow-up every 6–12 months, and annual abdominal/pelvic MRI or CT screening to monitor for renal malignancy.<br /><br />Overall, the case underscores the importance of considering BHDS in patients with spontaneous pneumothorax and characteristic skin lesions, as early diagnosis can improve outcomes and prevent metastatic renal disease.

Asset Subtitle

Alise F. Haddad

Meta Tag

Author List Alise F. Haddad, Austin Mueller, Pramod Savarapu

Category Clinical Vignettes

Concept Birt-Hogg-Dubé Syndrome

Concept Spontaneous pneumothorax

Concept Fibrofolliculoma

Concept Renal Carcinoma

Concept FLCN Mutation

Distinguished Non-Finalist

Presenter Organization Oakland University William Beaumont School of Medicine

Presenting Author Alise F. Haddad

Track Adult

Keywords

Birt-Hogg-Dubé syndrome

FLCN gene

spontaneous pneumothorax

fibrofolliculomas

pulmonary cysts

renal carcinoma

genetic testing

cutaneous lesions

CT imaging

surveillance screening

Birt-Hogg-Dubé Syndrome

Spontaneous pneumothorax

Fibrofolliculoma

Renal Carcinoma

FLCN Mutation