Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation

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 gene; therefore, the patient was diagnosed with BHD syndrome. This report is the first to describe BHD syndrome accompanied by pulmonary arteriovenous malformation.

A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review

“…Up to now, including our previous and present findings, totally 30 cases or families harboring 24 unique FLCN intragenic deletions/duplications have now been reported worldwide ( Figure 3B and Table 1 ) ( Kunogi et al, 2010 ; Sempau et al, 2010 ; Benhammou et al, 2011 ; Houweling et al, 2011 ; Babaei Jandaghi et al, 2013 ; Ding et al, 2015 ; Matsutani et al, 2016 ; Liu et al, 2017 ; Rossing et al, 2017 ; Iwabuchi et al, 2018 ; Schneider et al, 2018 ; Enomoto et al, 2020 ). Patients with FLCN deletions/duplications exhibit a high degree of interfamilial clinical variability, while no particular phenotype was seen more frequently in association with intragenic deletions ( p > 0.05) ( Supplementary Table 4 ).…”