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Birt-Hogg-Dubé Syndrome

Birt Hogg Dube Syndrome


  • We present the only known cases of intracranial vascular pathologies in patients with Birt-Hogg-Dubé syndrome.[ncbi.nlm.nih.gov]
  • She presented 2–4 mm, white, dome-shaped papules involving the neck, which appeared during the last 2 years. Her brother also presented multiple skin lesions involving the head and neck.[academic.oup.com]
  • The section Cases presents brief case reports that convey clear, practical lessons. Preference is given to common presentations of important rare conditions, and important unusual presentations of common problems.[cmaj.ca]
Weight Loss
  • If the disease is advanced, patients may have symptoms such as cough, bone pain, headache, anemia, and weight loss.[ 64 ] Therefore, all newly diagnosed patients should be offered abdominal imaging to exclude renal tumors.[ncbi.nlm.nih.gov]
  • We reported the case of a 56-year-old Chinese woman who presented skin lesions, multiple lung bubblae, recurrent pneumothoraxes, thyroid nodules, and pulmonary inflammatory pseudotumors (PITs).[ncbi.nlm.nih.gov]
  • We describe the fine needle aspiration findings of one of the renal tumors, which was suggestive of so-called hybrid oncocytic tumor.[ncbi.nlm.nih.gov]
  • Larger lesions may require aspiration or a chest tube. The renal tumors usually grow slowly and are rarely aggressive. They cause problems primarily by reducing the amount of functional renal parenchyma.[dermatologyadvisor.com]
  • The complications of Birt-Hogg-Dubé Syndrome may include: Severe chest pain Hypotension (drop in blood pressure) due to pneumothorax Tension pneumothorax: Air build up in the lung puts pressure on the heart and on the other lung.[dovemed.com]
Vascular Disease
  • Accompanying multiple small nodules, especially calcified nodules, are characteristic chest CT findings and usually have association with collagen vascular disease such as Sjögren syndrome ( 19 ).[ncbi.nlm.nih.gov]
Bone Pain
  • If the disease is advanced, patients may have symptoms such as cough, bone pain, headache, anemia, and weight loss.[ 64 ] Therefore, all newly diagnosed patients should be offered abdominal imaging to exclude renal tumors.[ncbi.nlm.nih.gov]
Retinal Pigmentation
  • The signs and symptoms of Birt-Hogg-Dubé Syndrome may include: Very frequently present symptoms in 80-99% of the cases: Emphysema Papule Skin tags Frequently present symptoms in 30-79% of the cases: Abnormality of retinal pigmentation Multiple lipomas[dovemed.com]
Facial Papule
  • Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces.[ncbi.nlm.nih.gov]
  • Phenotypical features of this rare syndrome include multiple white dome-shaped facial papules and bilateral basal lung cysts, predisposing to spontaneous pneumothorax.[mja.com.au]
  • Additional findings may include facial papules, intestinal polyposis, colorectal adenomas, parotid oncocytomas, neural tissue tumors, lipomas, and angiolipomas. read more[ctgt.net]
Normal Hair
  • Only one biopsy of a lesion of the face showed a discrete dermal proliferation of basaloid epithelial nests around a normal hair follicle, with surrounding fibrosis, consistent with perifollicular fibroma ( Figure 2 ).[scielo.br]
Renal Insufficiency
  • If radical nephrectomy is performed in these patients, they might develop tumors in the remaining kidney, and this may result in a more severe prognosis with renal insufficiency and dialysis.[ncbi.nlm.nih.gov]


  • The patient’s haematological and biochemical workup was within normal limits. Urine routine and microscopic examination was within normal limits.[casereports.in]
  • The patient’s medical history included post-nasal drip, dyslipidemia and hypertension. She had no history of other respiratory illness or abnormalities of the skin, kidneys or central nervous system, and she was a lifetime nonsmoker.[cmaj.ca]
Human Papillomavirus
  • KEYWORDS: Birt–Hogg–Dubé syndrome; Fibrofolliculomas; Human papillomavirus; Human polyomavirus; Pneumothorax; Renal cancer [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]


  • Current treatments for fibrofolliculomas have high rates of recurrence and carry a risk of complications. It would be desirable to have a treatment that could prevent fibrofolliculomas from growing.[ncbi.nlm.nih.gov]
  • Treatment Options Table I. Options for treatment of Birt-Hogg-Dubé syndrome Table I.[dermatologyadvisor.com]
  • Rohit Bhagat MD - General Medicine Internal Medicine Specialist - Specializes in Treatment of Birt-Hogg-Dube Syndrome 12/73. Raj nagar Raj Nagar, Ghaziabad Dr.[lybrate.com]


  • Of BHDS kidney cancers 80–85% are slow growing with a low potential for metastasizing and a favorable prognosis.[ncbi.nlm.nih.gov]
  • Prognosis The prognosis for patients with BHD is dependent on the degree of internal involvement and the type of kidney tumor involved. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Furthermore, others have highlighted the existence of BHDS in the absence of FF/TD. 4 Since renal cell carcinomas are reputably clinically silent and late detection associated with worse prognosis, they must be specifically addressed in BHDS patients[scielo.br]


  • Most etiologies are benign in nature; however, there are several syndromes that are associated with potentially fatal pulmonary or systemic manifestations.[ncbi.nlm.nih.gov]
  • Etiology BHD syndrome is transmitted in an autosomal dominant fashion. A potential causative gene, FLCN, has been located on chromosome 17p11.2.[orpha.net]
  • (Etiology) Birt-Hogg-Dubé Syndrome develops as a result of mutation(s) in the FLCN gene The disorder is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one[dovemed.com]


  • Recent epidemiological studies have shown a significant association between the occurrence of lesions in the fibrofolliculoma/trichodiscoma category with renal neoplasms and pneumothoracies. The BHD protein folliculin had recently been identified.[ncbi.nlm.nih.gov]
  • Epidemiology, Pauline K. Rehal, Michael S.[cancerres.aacrjournals.org]
  • Summary Epidemiology The prevalence of BHD is estimated at 1/200,000 but the exact incidence is unknown. There have been more than 100 families affected by BHD.[orpha.net]
  • "Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.". Clin Genet 90 (5): 403-412. doi : 10.1111/cge.12807. PMID 27220747. Hes, O.; Petersson, F.; Kuroda, N.; Hora, M.; Michal, M. (Oct 2013).[librepathology.org]
Sex distribution
Age distribution


  • In this review, we summarize current understanding of BHD syndrome with special attention to the pathophysiology of lung cysts formation.[ncbi.nlm.nih.gov]
  • […] disorders or settings where the test may be helpful Genetic diagnosis of Birt-Hogg-Dube syndrome for clinical management, risk assessment for related clinical symptoms, and genetic counseling for family members Clinical Information Discusses physiology, pathophysiology[mayomedicallaboratories.com]
  • Etiology Pathophysiology Birt-Hogg-Dubesyndrome is inherited in an autosomal dominant fashion. The offspringof an affected individual have a 50% chance of inheriting an abnormal FLCN gene and developing the disease.[dermatologyadvisor.com]
  • Pathophysiology Birt-Hogg-Dubé syndrome is caused by a mutation in the folliculin ( FLCN ) gene that has been mapped to the short arm of chromosome 17, specifically 17p11.2. [23, 20] Since its discovery, over 100 unique mutations in FLCN, caused by insertion[emedicine.com]


  • Birt-Hogg-Dubé Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD.[ncbi.nlm.nih.gov]

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