A CASE OF BIRT-HOGG-DUBÉ SYNDROME WITH PNEUMOTHORAX

TOPIC: Genetic and Developmental Disorders TYPE: Medical Student/Resident Case Reports INTRODUCTION: Birt-Hogg-Dubé Syndrome (BHDS), is an exceedingly rare autosomal dominant disorder caused by a mutation in the folliculin (FCLN) gene. This can lead to pulmonary cysts, spontaneous pneumothorax, skin lesions, renal tumors CASE PRESENTATION: A 39-year-old female was hospitalized for pneumothorax successfully treated with chest tube placement. Computed tomography scan showed multiple cysts. Further questioning revealed that patient's brother has history of she had waxing waning lesions on her face several years, extensive family ovarian malignancy. Gene sequence analysis FCLN gene confirming diagnosis BHDS. management including screening cancer been negative. Family members declined genetic counseling. DISCUSSION: The causing BHDS leads loss function protein. hypothesized defects cell-cell adhesion cause repeated respiration-induced physical stretch and, time, expansion alveolar spaces. incidence unknown, though over 200 families worldwide have positively identified. Of many clinical findings BHDS, most consistent, frequently first manifestation, fibrofolliculomas appear as white-grey papules 1 4 mm size. They often are seen head, neck, rosaceiform pattern. common form lung involvement bilateral. Approximately 70 80 percent patients will develop at least one their lifetime. almost 30 rupture pneumothorax. Finally, dreaded manifestation prevalence up 34 age 70. histology chromophobe tumors, however clear cell carcinoma papillary also not infrequently. Management primarily revolves around life-long surveillance which there no consensus how should be screened. Typically, abdominal computed recommended 21 or onset every 3 years until mass Fibrofolliculomas benign do require treatment aside cosmetic purposes. Treatment same general population. testing counseling offered all first-degree relatives. CONCLUSIONS: extremely suspected personal pneumothoraces, tumors. REFERENCE #1: DiCicco, Beau, et al. "Koenen's Tumor Facial Angiofibromas Syndrome: Cutaneous Contribution Growing Evidence Relationship Tuberous Sclerosis Complex." JAAD Reports, Elsevier, 25 May 2016, www.ncbi.nlm.nih.gov/pmc/articles/PMC4885148/. #2: Jensen, Dea Kejlberg, "Birt-Hogg-Dubé Report Review Literature." European Clinical Respiratory Journal, Taylor & Francis, 20 Feb. 2017, www.ncbi.nlm.nih.gov/pmc/articles/PMC5345590/. #3: Kennedy JC, Khabibullin D, Henske EP. Mechanisms cyst pathogenesis Birt-Hogg-Dube syndrome: hypothesis. Semin Cell Dev Biol. 2016 Apr;52:47-52. doi: 10.1016/j.semcdb.2016.02.014. Epub Feb 10. PMID: 26877139. DISCLOSURES: No relevant relationships Michael Peliska, source=Web Response Mouhammed Rihawi, EYOB TADESSE,