Birt-Hogg-Dubé Syndrome

Abstract

HomeRadiologyVol. 302, No. 3 PreviousNext Reviews and CommentaryFree AccessImages in RadiologyBirt-Hogg-Dubé SyndromeSubha Ghosh , Carol F. FarverSubha Ghosh , Carol F. FarverAuthor AffiliationsFrom the Section of Thoracic Imaging, Imaging Institute, Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH 44195 (S.G.); and Department of Pathology, University of Michigan, Ann Arbor, Mich (C.F.F.).Address correspondence to S.G. (e-mail: [email protected]).Subha Ghosh Carol F. FarverPublished Online:Nov 30 2021https://doi.org/10.1148/radiol.2021211972MoreSectionsPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked In A 47-year-old man with a 30-pack-year smoking history presented with a chronic nonproductive cough and multiple dome-shaped, smooth, whitish facial papules (Figure, A). His family history was negative for renal neoplasms, pneumothorax, and seizures, and his spirometry results were normal. CT showed multiple peripheral, lentiform, perifissural, and intraparenchymal thin-walled cysts in both lungs (Figure, C). Skin biopsy of the facial papules showed fibrofolliculomas (Figure, B), which is a major diagnostic criterion for Birt-Hogg-Dubé syndrome. Notably, one major criterion or two minor criteria are needed to confirm diagnosis (1). Abdominal imaging showed no renal mass.Images in 47-year-old man with 30-pack-year smoking history who presented with chronic nonproductive cough. (A) Photograph of patient’s face shows multiple dome-shaped, smooth, whitish facial papules (arrows). (B) Photomicrograph (hematoxylin-eosin stain; original magnification, ×40) of excisional biopsy of papule shows typical findings for fibrofolliculoma. These are characterized by proliferation of follicular epithelium with prominent epithelial strands, with whirling architecture (open arrow), surrounded by perifollicular fibrous sheath (solid arrow). (C) Thin-section axial chest CT scan shows multiple thin-walled peripheral lentiform cysts (arrows) in both lungs characteristic of Birt-Hogg-Dubé syndrome.Download as PowerPointOpen in Image Viewer Birt-Hogg-Dubé syndrome is an autosomal dominant, multisystem disorder caused by a mutation in the folliculin gene, FLCN (17p11.2). This inherited disease is characterized by cutaneous lesions, renal tumors, cystic lung disease, and spontaneous pneumothorax (1). Skin lesions include fibrofolliculomas, trichodiscomas, and acrochordons (2). MRI of the kidneys is recommended every 3 years to exclude the known propensity for the development of chromophobe cell cancer and oncocytomas in these patients. Pleurodesis is frequently performed after the initial episode of spontaneous pneumothorax because of a high incidence of recurrence (3).Disclosures of Conflicts of Interest: S.G. No relevant relationships. C.F.F. No relevant relationships.Reference1. Menko FH, van Steensel MA, Giraud S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol 2009;10(12):1199–1206. Crossref, Medline, Google Scholar2. Aivaz O, Berkman S, Middelton L, Linehan WM, DiGiovanna JJ, Cowen EW. Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dubé Syndrome. JAMA Dermatol 2015;151(7):770–774. Crossref, Medline, Google Scholar3. Gupta N, Kopras EJ, Henske EP, et al. Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome. Ann Am Thorac Soc 2017;14(5):706–713. Crossref, Medline, Google ScholarArticle HistoryReceived: Aug 5 2021Revision requested: Sept 1 2021Revision received: Sept 3 2021Accepted: Sept 9 2021Published online: Nov 30 2021Published in print: Mar 2022 FiguresReferencesRelatedDetailsRecommended Articles Cardiopulmonary and Gastrointestinal Manifestations of Eosinophil- associated Diseases and Idiopathic Hypereosinophilic Syndromes: Multimodality Imaging ApproachRadioGraphics2016Volume: 36Issue: 2pp. 433-451Imaging Evaluation of Pediatric Parotid Gland AbnormalitiesRadioGraphics2018Volume: 38Issue: 5pp. 1552-1575Hereditary Renal Cystic Disorders: Imaging of the Kidneys and BeyondRadioGraphics2017Volume: 37Issue: 3pp. 924-946Case 291: Amyloid-associated Cystic Lung Disease and Coexistent Mucosa-associated Lymphoid Tissue LymphomaRadiology2021Volume: 300Issue: 1pp. 237-242Imaging of Histiocytosis in the Era of Genomic MedicineRadioGraphics2018Volume: 39Issue: 1pp. 95-114See More RSNA Education Exhibits Lung Cysts: Uncommon and Rare Etiologies with Clinical and Pathological CorrelationDigital Posters2019Radiologic-Pathologic Correlation of Cystic Lung DiseasesDigital Posters2020Imaging Overview Of Cystic Lung Diseases and Their MimicsDigital Posters2020 RSNA Case Collection LymphangioleiomyomatosisRSNA Case Collection2021Pneumothorax Ex VacuoRSNA Case Collection2022Pulmonary HamartomaRSNA Case Collection2021 Vol. 302, No. 3 Metrics Altmetric Score PDF download