Respir Case Rep. 2021; 10(3): 186-189 | DOI: 10.5505/respircase.2021.40327

A Rare Coexistence of Birt-Hogg-Dubé Syndrome and Sarcoidosis

Celal Satýcý¹, Gizem Köybaþý¹, Ayþe Koyukan², Ekrem Cengiz Seyhan^1
1Department of Chest Disesases, University of Health Sciences, Yedikule Research and Training Hospital for Chest Diseases and Chest Surgery, Ýstanbul, Turkey
²Department of Pathology, University of Health Sciences, Yedikule Research and Training Hospital for Chest Diseases and Chest Surgery, Istanbul, Turkey

A pathophysiological link may exist between Birt-Hogg-Dubé syndrome (BHD) and pulmonary sarcoidosis such that the folliculin protein encoded by the FLCN gene may lead to the development of sarcoidosis through the upregulation of T- helper 1 cell activation. We present here a rare case of coexisting BHD and sarcoidosis. Enlarged mediastinal lymphadenopathy may be underdiagnosed in patients with BHD, and so both the mediastinal and lung window of a thoracic CT scan should be evaluated carefully and a biopsy should be performed if pathologic lymphadenopathies are indicated.

Keywords: Birt Hogg Dubé, sarcoidosis, fibrofolliculoma, mediastinal lymphadenopathy.

---

Birt-Hogg-Dubé Sendromu ve Sarkoidozun Nadir Birlikteliði

Celal Satýcý¹, Gizem Köybaþý¹, Ayþe Koyukan², Ekrem Cengiz Seyhan^1
1Saðlýk Bilimleri Üniversitesi, Yedikule Göðüs Hastalýklarý Ve Göðüs Cerrahisi Eðitim Ve Araþtýrma Hastanesi, Göðüs Hastalýklarý anabilim Dalý, Ýstanbul
²Saðlýk Bilimleri Üniversitesi, Yedikule Göðüs Hastalýklarý Ve Göðüs Cerrahisi Eðitim Ve Araþtýrma Hastanesi, Patoloji Anabilim Dalý, Ýstanbul

Birt-Hogg-Dube (BHD) sendromuna sahip hastalarda FLCN geni tarafýndan kodlanan folliculin proteininin T-helper-1 hücre aktivasyonuna yol açarak sarkoidoza yol açabileceði ve bu sebeple bu iki hastalýk arasýnda patofizyolojik bir ortaklýk olabileceði düþünülmektedir. Burada nadir bir BHD sendromu ve sarkoidoz birlikteliði olgusunu sunuyoruz. BHD tanýsý alan hastalarýn toraks bilgisayarlý tomografilerinin hem parankim hem de mediasten penceresinde olasý bir mediastinal lenfadenopatiyi gözden kaçýrmamak adýna detaylý olarak incelenemeli ve patolojik boyutta bir lenf nodu mevcut ise biyopsi yapýlmalýdýr.

Anahtar Kelimeler: Birt Hogg Dubé, sarkoidoz, fibrofolikulom, mediastinal lenfadenopati.

---

CITE