Birt-Hogg-Dube Syndrome with Multiple Cysts and Recurrent Pneumothorax: Pathological Findings

Abstract

A 39-year-old woman presented with right-sided pneumothorax. Partial lung resection was done via thoracoscopy. Five years later, left-sided pneumothorax occurred, and she underwent thoracoscopy again. However, air leakage continued, and pleurodesis was performed. Although she had no skin eruptions or renal tumors, Birt-Hogg-Dubé (BHD) syndrome was suggested by radiographic findings. BHD gene analysis was performed, which revealed the BHD gene mutation. Reevaluation of pathological findings showed elastic fibers in the alveolar walls with fine granular changes and accumulation of macrophages. BHD syndrome should be considered in patients presenting with multiple pulmonary cysts with or without skin eruption, or kidney tumor.

A Unique, Histopathologic Lesion in a Subset of Patients With Spontaneous Pneumothorax

“…In the larger study of pneumothorax cases, there were 20 patients (21.7%) younger than 26 years, and PAFL was only identified in 10 of these (50%). The PAFL lesions are not described in any systematic fashion in the pathology specimens of lymphangioleiomyomatosis, Birt-HoggDubé, 15,16 Marfan syndrome, or Langerhans cell histiocytosis, 17 entities with high rates of pneumothorax. This suggests that PAFL is integral to the development of a specific type of pneumothorax, rather than a nonspecific reactive effect.…”

Birt-Hogg-Dubé Syndrome with Clear Cell Renal Cell Carcinoma in a Chinese Family

“…However, most cases involved Caucasians, with only two patients from Chinese families. In several analyses of Asian BHDS families, cases of renal neoplasms were found to be rare (13)(14)(15)(16)(17)(18). In the present Chinese BHDS family, one of the two affected individuals, the 67-year-old index patient, met the criteria for the full-blown BHDS clinical triad, including multiple skin lesions, pulmonary bullae and clear cell renal cell carcinoma.…”

Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax

“…More than 84% of BHDS patients had findings of a cystic lung disease, and 38% had histories of recurrent PSP (Hayashi et al, 2010). In a study by Kunogi et phenotypes was lung cysts without skin lesion and renal disease (Kunogi et al, 2010).…”