Association between Birt-Hogg-Dubé syndrome and Pulmonary Hypertension: a case series
<title>Extract</title> Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant inherited disorder with an estimated prevalence of approximately 2 cases per million [1]. It features benign cutaneous papules (fibrofolliculomas, trichodiscomas, and acrochordons), lung cysts, spontaneous pneumothorax, and an increased risk of kidney tumors. Germline pathogenic mutations in <italic>FLCN</italic>, a tumor suppressor gene encoding folliculin, were identified as causative for BHD syndrome [2].
Authors
- Nicolas Lamblin (ORCID: https://orcid.org/0000-0003-3754-1241)
- Étienne-Marie Jutant (ORCID: https://orcid.org/0000-0002-1374-1890)
- Laurent Savale (ORCID: https://orcid.org/0000-0002-6862-8975)
- Thomas Lacoste-Palasset (ORCID: https://orcid.org/0000-0003-3543-6675)
- David Montani (ORCID: https://orcid.org/0000-0002-9358-6922)
- Maria‐Rosa Ghigna (ORCID: https://orcid.org/0000-0001-5996-665X)
- Olivier Sitbon (ORCID: https://orcid.org/0000-0002-1942-1951)
- Delphine Horeau-Langlard
- Valentin Mandin (ORCID: https://orcid.org/0000-0001-5672-3687)
Institutions
- Inserm (FR)
- Université Paris-Saclay (FR)
- Institut Gustave Roussy (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Université de Poitiers (FR)
- Lille’s Cardiology Hospital (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centre Hospitalier Universitaire de Poitiers (FR)
- Hôpital Marie Lannelongue (FR)
- Groupe Hospitalier de l'Institut Catholique de Lille (FR)
- Institut du Thorax (FR)
- Bicêtre Hospital (FR)
Publication Details
- Journal
- ERJ Open Research
- Published
- 2026-07-30
- DOI
- https://doi.org/10.1183/23120541.00549-2026
- Primary Topic
- Renal cell carcinoma treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00