The establishment of diagnostic criteria for Birt-Hogg-Dube (BHD) syndrome and equalization of ability of diagnosing and managing BHD in Japan (multicenter collaborative study)

The establishment of diagnostic criteria for Birt-Hogg-Dube (BHD) syndrome and equalization of ability of diagnosing and managing BHD in Japan (multicenter collaborative study) - The establishment of diagnostic criteria for Birt-Hogg-Dube (BHD) syndrome and equalization of ability of diagnosing and managing BHD in Japan (multicenter collaborative study)

Status

Recruiting

Phases

Unknown

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000031873

Enrollment

100

Registered

2018-04-01

Start date

2018-01-23

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Birt-Hogg-Dube syndrome

Interventions

Analysis of germline FLCN mutation and Dermatological evaluation of face and upper chest (biopsy of skin papule may be performed if indicated)

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patients with spontaneous pneumothroax whose computed tomography of the chest showed multiple pulmonary cysts that have features typical for that of BHD syndrome are the candicate for this study. Patients can participatein the study if they give the written informed consent to FLCN genetic testing and dermatoloigc evaluation after the explanation of the study.

Exclusion criteria

Exclusion criteria: Patients with spontaneous pneumothroax whose computed tomography of the chest showed multiple pulmonary cysts, but those not having typical features of BHD syndrome, will be excluded.

Design outcomes

Primary

Measure	Time frame
Frequency of skin lesions, pathological findings of skin lesion, type of FLCN gene mutation, characteristics of clinical phenotypes	—

Countries

Japan

Contacts

Public ContactKuniaki Seyama

Juntendo University Faculty of Medicine and Graduate School of Medicine Respiratory Medicine

kseyama@juntendo.ac.jp03-5802-1063

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026