The purpose of this educational exhibition is to describe Birt-Hogg-Dubé syndrome (BHDS), considering the diagnostic criteria proposed by the European BHD Consortium. We cite genetic disorders, clinical characteristics, therapeutic strategies, emphasizing the importance of diagnostic imaging.

BHDS also called Hornstein-Knickenberg syndrome is a rare genetic syndrome, autosomal dominant, first described in 1977. This multiorgan systemic disorder is caused by germline mutations in the folliculin gene (FLCN), located on chromosome 17p11.2, which leads to premature degradation of RNA and tumorigenesis. BHDS manifestations include: CUTANEOUS. Benign tumors such as fibrofolliculomas or trichodiscomas distributed in theface, neck andretroauriculararea, which appear in the third or fourth decade of life. (Figure 1) They are observed as numerous shiny papules, white or skin-colored, with a diameter of...

1. Multiple, dome-shaped, whitish papules distributed on the nose and cheeks of a patient with FLCN mutation. Source: Menko FH, et al. [6] 2. This figure shows the main difference between three entities: Birt-Hogg-Dubé syndrome (BHDS), lymphangioleiomyomatosis and Langerhans cell histiocytosis. 3. Thoracic CT showing the appearance of lung cysts in a patient with BHDS. Axial reformatted images showing cysts predominantly in medial (A) and basal (B) pulmonary segments. 4. Posteroanterior (PA) radiograph and axial thoracic CT shows a patient with lymphangioleiomyomatosis. Multiple thin-walled cysts...

In Birt-Hogg-Dubé syndrome (BHDS), the early detection and treatment of renal tumors, as well as the prevention of pneumothorax, make it advisable to obtain abdominal and baseline images of the thorax by means of ultrasonography, CT or MRI with intravenous contrast.

Servicio de Radiodiagnóstico. Complejo Asistencial Universitario de León, León, España.

1. Skolnik K, Tsai WH, Dornan K, Perrier R, Burrowes PW, Davidson WJ. Birt-Hogg-Dubé syndrome: a large single family cohort. Respir Res 2016; 17: 22 2. Johannesma PC,Reinhard R,Kon Y,Sriram JD,Smit HJ,R. Jeroen A.van Moorselaar JA, et al. Prevalence of Birt–Hogg–Dubé syndrome in patients with apparently primary spontaneous pneumothorax. European Respiratory Journal2015;45:1191-1194 3. Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, et al. Risk of renal and colonic neoplasm and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev 2002;...