case report bhd

7/27/2019 Case Report BHD

1/18

Case Report

A Young Man With Bilateral

Spontaneus Pneumothorax

Liese Lieve WillemienVerhaert

Maria Ulfa Noor Alika
http://www.ncbi.nlm.nih.gov/pubmed/?term=Verhaert%20LL%5Bauth%5Dhttp://www.ncbi.nlm.nih.gov/pubmed/?term=Verhaert%20LL%5Bauth%5Dhttp://www.ncbi.nlm.nih.gov/pubmed/?term=Verhaert%20LL%5Bauth%5Dhttp://www.ncbi.nlm.nih.gov/pubmed/?term=Verhaert%20LL%5Bauth%5D


2/18

Abstract

Birt-Hogg-Dub syndrome is a rare

autosomal dominant inherited

genodermatosis and characterised by

clinical manifestations includinghamartomas of the skin, renal tumors, and

pulmonary cysts with spontaneous

pneumothorax.


3/18

Case

Presentation


4/18

Identity

Name : Mr. X

Age : 33 years old

Gender : Male


5/18

History Taking

A 33-year-old male nonsmokerpresented with sudden onset ofdyspnoea and thoracic pain, He

had a positive family history ofpneumothorax, A detailed familyhistory suggested an aunt whohad also suffered a spontaneouspneumothorax.


6/18

Physical examination &

Laboratories finding He had normal haemodynamics and a

peripheral blood oxygen saturation of 95%

by clinical examination. He had no skin

lesions

Imaging Studies

Chest radiograph

showed a left-sided

pneumothorax


7/18

Next day, patient underwent a

thoracoscopy under local

anaesthesia.There was seen a big bulla in

the left lung top


8/18

Therapy

Thoraxdrain

Followed by surgical

intervention with abullectomy and pleurectomy.


9/18

Few days later, he had a right-sided pneumothorax.

Next day, he received again

surgical intervention on the right

side with bullectomy and

pleurectomy.


10/18

Imaging Studies

Computed Tomography (CT SCAN)

showed multiple pulmonary cysts

predominantly located in the lower

lung regions


11/18

Diagnose

Because of bilateral pneumothoraces,positive family history, and pulmonarycysts, this patient suspected Birt-

Hogg-Dub syndrome (BHD). Genetic investigation showed indeed

mutation in exon 10 (c.655dupG) of

the FLCN gene sequencing test thatconfirmed the diagnosis of BHD.


12/18

Discussion

Birt-Hogg-Dub syndrome is a rareautosomal dominant inherited

Characterised by clinical manifestations

including hamartomas of the skin(fibrofolliculomas, etc), renal tumours,

and pulmonary cysts with spontaneous

pneumothorax.

Patients with BHD syndrome do not

always have all three manifestations.


13/18

Skin lession in BHD


14/18

Renal tumor in BHD

P l t & th i


15/18

Pulmonary cyst & pneumothorax in

BBHD


16/18

Pasien datang

dengan keluhan

sesak nafas hebat

dan nyeri dada

Hasil xray :

Pneumothorax

paru kiri

Terdapat riwayat

keluarga

pneumothorax

spontan

Dilakukanthoracoscopy

untuk mencari

penyebab

pneumothorax

spontannya

Ditemukan bula

yang besar di paru

kiri bagian atas

Dilakukan thorax

drain (WSD) dan

bullectomy.

Beberapa hari

kemudian, pasien

datang dengan

pneumothorax

spontan pada

paru kanan

Pada CT scan juga

ditemukan kista

pada paru-paru

Dilakukan thorax

drain (WSD) dan

bullectomy.

Suspek Sindrome Birt

Hogg Dube

- Bilateral pneumothorax

- Ada riwayat keluarga

spontan pneumothorax


17/18

Conclusion

Birt-Hogg-Dub syndrome is a rare autosomaldominant inherited genodermatosis andcharacterised by clinical manifestations includinghamartomas of the skin, renal tumors, and

pulmonary cysts with spontaneouspneumothorax.

BHD is probably underdiagnosed because of the

wide variability in its clinical expression. Thinkabout the diagnosis by a patient who presentswith (bilateral) spontaneous pneumothorax anda positive family history of pneumothoraces.


18/18

case report bhd

Documents