Multidisipliner Yakla��m Gerektiren Bir Olgu: Birt-Hogg-Dube Sendromu

U�ar, Hatice Arzu; Yaz�c�, Onur; Ta� G�len, �ule; Yaz�c�, Aydan

Cilt : 14 Say� : 2 Y�l : 2025

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Multidisipliner Yakla��m Gerektiren Bir Olgu: Birt-Hogg-Dube Sendromu [Respir Case Rep]

Respir Case Rep. 2025; 14(2): 73-76 | DOI: 10.5505/respircase.2025.00236

Multidisipliner Yakla��m Gerektiren Bir Olgu: Birt-Hogg-Dube Sendromu

Hatice Arzu U�ar¹, Onur Yaz�c�¹, �ule Ta� G�len¹, Aydan Yaz�c�²
¹Ayd�n Adnan Menderes �niversitesi, G��s Hastal�klar� Ana Bilim Dal�
²Ayd�n Adnan Menderes �niversitesi, Deri ve Z�hrevi Hastal�klar� Ana Bilim Dal�, Ayd�n

Birt-Hogg-Dube Sendromu (BHDS); ba� ve boyun b�lgesi hamartomlar�, pulmoner kistler veya spontan pn�motoraks ile karakterizedir. Otozomal dominant ge�i� g�steren nadir bir hastal�kt�r. Follik�lin (FLCN) gen mutasyonu mevcuttur. Bizim olgumuz 53 ya��nda erkek hasta efor dispnesi ile ba�vurdu. G�r�nt�lemesinde sa� akci�erde pn�motoraks ve bilgisayarl� tomografide multipl kistik lezyonlar g�r�ld�. �ki y�l sonra, hasta sol g��s a�r�s� ile ba�vurdu. Sol akci�erde pn�motoraks g�r�ld�. Hastada omuz, �ene ve al�n b�lgesinde 2-3 mm pap�l saptand�. Lezyonlar�n patolojisi trichodiscoma olarak sonu�land�. B�ll�z akci�er, trichodiscoma ve pozitif FLCN gen dizilimi olan hastaya BHDS tan�s� konuldu. Bu olgu, tekrarlayan pn�motoraks ve belirgin kutan�z bulgularla gelen hastalarda nadir kistik akci�er hastal�klar�n�n ay�r�c� tan�s�nda BDHS�nin d��n�lmesinin gereklili�ini vurgulamak i�in payla��ld�.

Anahtar Kelimeler: Birt-Hogg-Dube Sendromu, Trichodiskoma, Pulmoner Kist

A Case Requiring a Multidisciplinary Approach: Birt-Hogg-Dube Syndrome

Hatice Arzu U�ar¹, Onur Yaz�c�¹, �ule Ta� G�len¹, Aydan Yaz�c�²
¹Depertment of Chest Dieases, Ayd�n Adnan Menderes �niversity, Ayd�n, T�rkiye
²Department of Dermatology, Ayd�n Adnan Menderes �niversity, Ayd�n, T�rkiye

Birt-Hogg-Dub� Syndrome (BHDS) is characterized by benign cutaneous lesions in the head and neck region, pulmonary cysts or spontaneous pneumothorax. It is a rare disorder associated with a mutation in the folliculin (FLCN) gene. A 53-year-old male patient who presented with exertional dyspnea was identified with multiple cystic lesions in a computed tomography (CT) scan, as well as pneumothorax in the right lung. The patient presented again 2 years later complaining of left-side chest pain, and left-sided pneumothorax was identified on imaging. The patient had 2�3 mm papules on his shoulders, cheeks and forehead, and a pathological examination confirmed a diagnosis of trichodiscoma. The patient, who had bullous lung disease, trichodiscoma and a positive FLCN gene sequencing result, was diagnosed with BHDS. We share this case to emphasize the need to consider BHDS in the differential diagnosis of rare cystic lung diseases in patients presenting with recurrent pneumothorax and distinctive cutaneous findings.

Keywords: Birt-Hogg-Dube Syndrome, Trichodiskoma, Pulmonary Cyst

Sorumlu Yazar: Hatice Arzu U�ar, T�rkiye
Makale Dili: �ngilizce

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