The clinical characteristics of East Asian patients with Birt-Hogg-Dube syndrome.

ABSTRACT:

Background

Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant disease that has been characterized by skin lesions, multiple pulmonary cysts, spontaneous pneumothorax, and renal tumors, but the patients in Asian countries may show fewer symptoms. We aimed to explore and summarize the clinical features of BHD patients in East Asia to facilitate early diagnosis and timely interventions.

Methods

We collected and analyzed the clinical data of patients diagnosed with BHD in our hospital by reviewing medical records. We performed a systematic literature search regarding the presenting clinical features in BHD patients from China, Japan, and Korea and then reviewed the publications that were identified.

Results

In our hospital, 10 patients were diagnosed with BHD from Apr

SUBMITTER: Guo T 

PROVIDER: S-EPMC7723594 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature