Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation

Noriyuki Matsutani, Hitoshi Dejima, Yusuke Takahashi, Hirofumi Uehara, Hisae Iinuma, Fumihiko Tanaka, Masafumi Kawamura

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

A 25-year-old male with Birt-Hogg-Dube (BHD) syndrome who developed hemothorax caused by ruptured of pulmonary arteriovenous malformation was reported. The patient was admitted to the hospital due to chest pain. A chest X-ray showed pleural fluid in his left lung, and a chest CT showed the presence of a tumor with enhanced contrast in the lower left lobe of approximately 5 cm in a diameter. Pleural fluid was collected by tap and indicated the presence of blood; therefore, hemothorax was suspected. Thoracoscopic surgery was performed to remove the mass for homostasis. Pathological findings indicated that the resected tumor-like lesion was an intrapulmonary hematoma, and aggregated vascular vessels of various diameters forming incomplete media elastic lamina was observed around the hematoma; therefore, it was diagnosed as pulmonary arteriovenous malformation. Family history of the patient indicated the presence of pneumothorax and malignant diseases, and the patient presented with papules and multiple pulmonary cysts. The genetic test revealed a deletion of exon 11 of the BHD gene; therefore, the patient was diagnosed with BHD syndrome. This report is the first to describe BHD syndrome accompanied by pulmonary arteriovenous malformation.

Original languageEnglish
Pages (from-to)E1187-E1189
JournalJournal of Thoracic Disease
Volume8
Issue number10
DOIs
Publication statusPublished - 2016 Jan 1
Externally publishedYes

Fingerprint

Birt-Hogg-Dube Syndrome
Arteriovenous Malformations
Lung
Hemothorax
Hematoma
Thorax
Thoracoscopy
Pneumothorax
Chest Pain
Blood Vessels
Cysts
Exons
Neoplasms
X-Rays
Genes

Keywords

  • Birt-Hogg-Dube syndrome
  • Hemothorax
  • Pulmonary arteriovenous malformation

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Cite this

Matsutani, N., Dejima, H., Takahashi, Y., Uehara, H., Iinuma, H., Tanaka, F., & Kawamura, M. (2016). Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. Journal of Thoracic Disease, 8(10), E1187-E1189. https://doi.org/10.21037/jtd.2016.09.68

Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. / Matsutani, Noriyuki; Dejima, Hitoshi; Takahashi, Yusuke; Uehara, Hirofumi; Iinuma, Hisae; Tanaka, Fumihiko; Kawamura, Masafumi.

In: Journal of Thoracic Disease, Vol. 8, No. 10, 01.01.2016, p. E1187-E1189.

Research output: Contribution to journalArticle

Matsutani, N, Dejima, H, Takahashi, Y, Uehara, H, Iinuma, H, Tanaka, F & Kawamura, M 2016, 'Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation', Journal of Thoracic Disease, vol. 8, no. 10, pp. E1187-E1189. https://doi.org/10.21037/jtd.2016.09.68
Matsutani N, Dejima H, Takahashi Y, Uehara H, Iinuma H, Tanaka F et al. Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. Journal of Thoracic Disease. 2016 Jan 1;8(10):E1187-E1189. https://doi.org/10.21037/jtd.2016.09.68
Matsutani, Noriyuki ; Dejima, Hitoshi ; Takahashi, Yusuke ; Uehara, Hirofumi ; Iinuma, Hisae ; Tanaka, Fumihiko ; Kawamura, Masafumi. / Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. In: Journal of Thoracic Disease. 2016 ; Vol. 8, No. 10. pp. E1187-E1189.
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