Familial pneumothoraces: Birt–Hogg–Dubé syndrome

Abstract

897located on chromosome 17 p12 -q11.2. FCLN functions as a tumor suppressor. BHDS is a very rare disease with about 600 reported families worldwide. It is characterized by skin lesions (fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons), pulmonary cysts, pneumothoraces, and renal tumors. 1-5BHDS mainly affects adults, with first symptoms appearing between the age of 20 and 40 years. The most common first manifestations are skin lesions and pneumothoraces. The clinical presentation of BHDS varies widely, but 90% of patients were reported to develop skin or pulmonary lesions (or both); 25%, pneumothorax; and 30%, renal tumors. Familial pneumothoraces have been reported in 35% of patients. [3][4][5] The age is inversely correlated with the development of a pneumothorax, and the median age at the first episode was reported to be 38 years (range, 22-71 years), without differences between sexes. The majority of patients (75%) had recurrent pneumothoraces. Pulmonary cysts have different sizes, from small to large, with irregular distribution, and are often located in the middle and lower parts of both lungs. 5 Such localization is characteristic of BDHS and discriminates it from a very common disease such as emphysema, in which cysts mainly occur in the upper lung lobes. Diagnosis is based on identification of the pathogenic mutations in the FCLN gene.According to our best knowledge, this is the first case of BHDS reported in Poland, as the disorder is extremely rare and is rarely suspected by practitioners. A genetic assessment to confirm BHDS has only recently become available in Polish laboratories. The diagnosis of BHDS has additional consequences, as patients have 7 times higher risk for renal cancer and require regular ultrasound examinations of the abdomen.Cystic lung diseases constitute a significant proportion of rare disorders including tuberous sclerosis, lymphangioleiomyomatosis, alpha -1 antitrypsin deficiency, Ehlers-Danlos syndrome, Marfan syndrome, neurofibromatosis, amyloidosis, lymphoid interstitial pneumonia, Langerhans cell histiocytosis, and Birt-Hogg-Dubé syndrome (BHDS).We present a case of a 54 -year -old woman, a former smoker (1.5 pack/year), who was admitted to our department for evaluation of recurrent bilateral pneumothoraces. First, she experienced left -sided pneumothorax at the age of 34 years, which was treated with pleural drenage. The pneumothorax reoccurred 3 times during the same year. Four years later, she developed a right -sided pneumothorax, and pleurectomy was performed. In addition, she was surgically treated because of breast follicular fibroadenoma, uterine leiomyoma, and skin angiomyolipoma. Her sister, mother, and grandmother had recurrent pneumothoraces. On admission to the hospital, she was in good general condition. She had dyspnea on exertion and pain in the base of both lungs. The results of standard laboratory blood and urinary tests as well as alpha -1 antitrypsin levels were normal. A computed tomography scan showed multiple small, thin ...

Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé Syndrome

“…subsequently, 14 other cases have been identi ed [29,30]. We noticed a rather long mean diagnosis delay of approximately 20 years between rst symptom appearance and the diagnosis of BHDS.…”

“…Knowledge about this rare disease and awareness of BHDS by pulmonary physicians are increasing. In Poland, the rst case of BHDS was diagnosed in 2016; subsequently, 14 other cases have been identi ed [29,30]. We noticed a rather long mean diagnosis delay of approximately 20 years between rst symptom appearance and the diagnosis of BHDS.…”

“…Thirteen patients were con rmed by direct sequencing of the FLCN gene and two by clinical diagnosis. Three patients have been reported previously [29,30].…”

Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome

“…Thirteen patients were confirmed by direct sequencing of the FLCN gene and two by clinical diagnosis. Three patients have been reported previously [ 29 , 30 ].…”

Familial pneumothoraces – Birt-Hogg-Dubé syndrome. Differentiation with other cystic lung diseases

“…In the whole world there are about 600 families with BHDS. In Poland it was diagnosed and published for the first time in 2016 [4]. Lung cysts start to occur when patients are 30-40 years old [5].…”