A. Selvam*a (Dr), Y. Sivagnanamea (Prof), P. Radhakrishnana (Dr)

a Sri Manakula Vinayagar Medical College and Hospital, Puducherry, INDIA

* bonhomme117@gmail.com


Birt-Hogg-Dubé syndrome (BHD) is a rare inherited disorder caused by mutations in the folliculin coding gene (FLCN), characterised by multiple fibrofolliculomas, pulmonary cysts, pneumothorax, renal cysts and renal tumours.

CASE REPORT: A 29-year-old female came with complaints of breathlessness and dry cough for past 7 days which is insidious onset and progressive in nature. She also had left sided dull aching chest pain. She was a breastfeeding mother and had breathlessness in postpartum period. She is non-smoker with no co-morbidities. On examination, there was no visible cutaneous lesions. Her vitals were stable with pulse oximetry saturation of 95% @ room air. Routine blood investigations were normal. Chest auscultation revealed reduced breath sound intensity on right hemithorax. Chest radiography showed right pneumothorax and intercostal drain was inserted. Patient symptomatically improved. Computed tomography thorax showed multiple thin walled lentiform shaped and irregular cysts in the right lower lobe posterior basal segment. With radiological suspicion of cystic lung disease, patient was posted for video assisted thoracoscopic surgery and excision of the cyst was done and sent for HPE. USG abdomen was normal. Biopsy came out as predominant fibrocollagenous tissue along with a benign cystic lesion. Biopsy for phenotype study came positive for folliculin gene 1 mutation and was diagnosed as Birt-Hogg-Dubé syndrome. Genetic counselling was given and she is on regular follow up.

CONCLUSION: BHD syndrome should be considered in patients with spontaneous pneumothorax or cystic lung disease. Concomitant skin manifestations, family history of pneumothorax, renal cancers and skin manifestations supports the suspicion of BHD syndrome. Early diagnosis is important in order to subject patients to systematic screening for renal cancers.

Disclosure of funding source(s): none