573 results match your criteria Birt-Hogg-Dube Syndrome


Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene.

Case Rep Genet 2018 7;2018:4173704. Epub 2018 Nov 7.

Medical Corps, United States Navy, Pulmonary Department, Naval Medical Center, San Diego, 34800 Bob Wilson Drive, San Diego, CA 92134, USA.

Background: Birt-Hogg-Dubé syndrome is a genetic disorder characterized by skin fibrofolliculomas, cystic lung disease, and bilateral renal tumors. It has also been implicated in the formation of tumors in other organs, particularly thyroid and colon. This case presents a young female presenting with only cystic lung disease and kidney tumors, identified as having a never before identified heterozygous mutation in the folliculin () gene which is the likely cause of her syndrome. Read More

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November 2018

Concomitant fibrofolliculoma and trichodiscoma on the abdomen.

Cutis 2018 Oct;102(4):E30-E32

Department of Dermatology, Harbor-UCLA Medical Center, Torrance, California, USA.

Fibrofolliculoma and trichodiscoma are adnexal tumors that arise from or around hair follicles and are two of the many characteristic features of Birt-Hogg-Dubé (BHD) syndrome. Fibrofolliculoma and other hair follicle hamartomas can be differentiated from their clinically indistinct counterparts (eg, trichodiscomas, trichoadenomas) by histologic and staining comparison. We report a rare case of a 54-year-old man who presented with a subcutaneous papule on the abdomen that was histologically proven to have features of both a solitary fibrofolliculoma and trichodiscoma. Read More

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October 2018
1 Read

Recognizing Hereditary Renal Cancers Through the Microscope: A Pathology Update.

Surg Pathol Clin 2018 Dec 17;11(4):725-737. Epub 2018 Oct 17.

Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address:

A heightened understanding of hereditary renal cancer syndromes and their molecular basis has led to an increased awareness and recognition of these renal neoplasms by pathologists. Because a diagnosis of hereditary renal cell carcinoma has a profound impact on the patient and family members, when and how to raise such a suspicion via pathologic assessment has become an important yet very challenging task. This review discusses key clinicopathologic, immunohistochemical, and genetic characteristics of hereditary renal cancer syndromes, and important differential diagnostic challenges, emphasizing recent pathologic and molecular advances. Read More

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December 2018
4 Reads

FLCN is a novel Rab11A-interacting protein and is involved in the Rab11A-mediated recycling transport.

J Cell Sci 2018 Nov 16. Epub 2018 Nov 16.

Key Laboratory of Animal Biotechnology, the Ministry of Agriculture, College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China, 712100

The Birt-Hogg-Dubé (BHD) syndrome related protein FLCN has recently been implicated in the vesicular trafficking processes by interacting with several Rab family GTPases. In the previous studies, we have shown that FLCN could inhibit the binding of overexpressed PAT1, which is a membrane-bound amino acid transporter, to the lysosome in human embryonic kidney 293 cells. This tends to stabilize the lysosomal amino acid pool that is a critical signal to activate the mTORC1 signalling pathway. Read More

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November 2018
5 Reads

[Dermal Clues to Systemic Diseases].

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

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November 2018
9 Reads

The mTOR Independent Function of Tsc1 and FNIPs.

Trends Biochem Sci 2018 Dec 22;43(12):935-937. Epub 2018 Oct 22.

Department of Urology, SUNY Upstate Medical University, Syracuse, NY 13210, USA; Upstate Cancer Center, SUNY Upstate Medical University, Syracuse, NY 13210, USA; Department of Biochemistry and Molecular Biology, SUNY Upstate Medical University, Syracuse, NY 13210, USA. Electronic address:

New roles for Tsc1 and FNIP1/2 as regulators of the molecular chaperone Hsp90 were recently identified, demonstrating a broader cellular impact outside of AMPK-mTOR signaling. In studying the function of these proteins we must take a holistic view of the cell, instead of maintaining our focus on a single pathway. Read More

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December 2018
1 Read

Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.

Korean J Intern Med 2018 Oct 26. Epub 2018 Oct 26.

Department of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Background/aims: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that is characterized by skin fibrofolliculomas, pulmonary cysts, and renal tumors. The objective of this study was to describe the features of Korean patients with BHD syndrome.

Methods: Clinical data were retrospectively reviewed in 12 patients (10 confirmed by direct sequencing of the folliculin (FLCN) gene and two confirmed by clinical diagnosis) diagnosed from 2004 to 2016 at Asan Medical Center, Seoul, South Korea. Read More

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October 2018
7 Reads

Hybrid oncocytic/chromophobe renal cell tumor: An integrated genetic and epigenetic characterization of a case.

Exp Mol Pathol 2018 Dec 18;105(3):352-356. Epub 2018 Oct 18.

Department of Pathology, Portuguese Oncology Institute of Porto, Portugal; Cancer Biology & Epigenetics Group, Research Center, Portuguese Oncology Institute of Porto, Portugal; Department of Pathology and Molecular Immunology, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Portugal. Electronic address:

Introduction: Hybrid oncocytic/chromophobe tumor (HOCT) is a renal cell neoplasm displaying overlapping cellular and architectural features of both renal oncocytoma (RO) and chromophobe renal cell carcinoma (chRCC). It has been described in the context of oncocytosis, Birt-Hogg-Dubé syndrome, and also sporadically. Thus far, HOCT immunohischemical profile and cytogenetic alterations have been reported, but not epigenetic alterations. Read More

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December 2018
3 Reads

Renal transplantation in Birt-Hogg-Dubé syndrome: should we?

BMC Nephrol 2018 Oct 16;19(1):267. Epub 2018 Oct 16.

Hospital Amato Lusitano, Rua Professora Maria Amalia Fevereiro Lote A 105, 4°direito, 6000-472, Castelo Branco, Portugal.

Background: Birt-Hogg-Dubé (BHD) Syndrome is a rare genodermatosis caused by a mutation on folliculin gene, with a strong link to renal cancer. To date few patients with such condition have reached dialysis stage, as nephron-sparing surgery is usually possible at the time of diagnosis. To our best knowledge no patient with BHD syndrome has been submitted to renal transplantation. Read More

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October 2018
5 Reads

A case of Birt-Hogg-Dubé syndrome accompanied by colon polyposis and oral papillomatosis.

Eur J Dermatol 2018 Oct;28(5):720-721

Department of Dermatology, Gunma University Graduate School of Medicine, 3-39-22 Showa, Maebashi, Gunma 371-8511, Japan.

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October 2018
4 Reads

Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma.

Curr Urol Rep 2018 Aug 16;19(10):82. Epub 2018 Aug 16.

Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, J8.130, Dallas, TX, 75390-9110, USA.

Purpose Of Review: To summarize the literature providing the basic genetic and clinical characteristics of renal cell carcinoma (RCC) familial syndromes, as well as to describe associated unique imaging characteristics and appropriate imaging protocols.

Recent Findings: At least 5-8% of RCC cases are associated with hereditary syndromes. These patients are prone to developing multiple renal tumors or associated malignancies and require more intense diagnostic and follow-up imaging studies. Read More

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August 2018
8 Reads

A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome.

Turk Thorac J 2018 Jul 1;19(3):150-152. Epub 2018 Jul 1.

Department of Radiology, Pamukkale University School of Medicine, Denizli, Turkey.

Birt-Hogg-Dube (BHD) syndrome is an unusual disorder characterized by the triad of cutaneous lesions, renal tumors and lung cysts. In cases with BHD syndrome, the frequency of recurrent pneumothorax is increased due to presence of multiple lung cysts. It is important to evaluate the BHD syndrome in differential diagnosis of recurrent pneumothorax especially with multiple lung cysts predominating in the lung base. Read More

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July 2018
2 Reads

Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome.

Case Rep Radiol 2018 3;2018:6265175. Epub 2018 Jun 3.

Department of Radiology, Ehime University Graduate School of Medicine, Toon, Japan.

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disease characterized by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and renal cancers. Oncocytomas are benign epithelial tumors that are also rare. Recently, there have been a few case reports of BHD with a parotid oncocytoma that appears to have a BHD phenotype. Read More

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June 2018
4 Reads

Oncocytoma of the adrenal gland in Birt-Hogg-Dube syndrome.

BMJ Case Rep 2018 Jun 21;2018. Epub 2018 Jun 21.

General Surgery, Queen Elizabeth University Hospital Campus, Glasgow, UK.

A 32-year-old man was referred to our surgical unit with a left adrenal lesion. He was previously diagnosed with Birt-Hogg-Dube syndrome after presenting with a left pneumothorax and an incidental finding of a right apical lung mass. This syndrome is characterised commonly by benign skin hamartomas, recurrent pneumothoraces and an increased risk of renal tumours. Read More

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June 2018
1 Read

Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation.

PLoS One 2018 13;13(6):e0197973. Epub 2018 Jun 13.

The Department of Comparative Medicine, University of Washington, Seattle, Washington, United States of America.

Birt-Hogg-Dube' Syndrome (BHDS) is a rare genetic disorder in humans characterized by skin hamartomas, lung cysts, pneumothorax, and increased risk of renal tumors. BHDS is caused by mutations in the BHD gene, which encodes for Folliculin, a cytoplasmic adapter protein that binds to Folliculin interacting proteins-1 and -2 (Fnip1, Fnip2) as well as the master energy sensor AMP kinase (AMPK). Whereas kidney-specific deletion of the Bhd gene in mice is known to result in polycystic kidney disease (PKD) and renal cell carcinoma, the roles of Fnip1 in renal cell development and function are unclear. Read More

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December 2018
16 Reads

Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma.

Proc Natl Acad Sci U S A 2018 07 11;115(27):E6274-E6282. Epub 2018 Jun 11.

Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115.

Chromophobe renal cell carcinoma (ChRCC) accounts for 5% of all sporadic renal cancers and can also occur in genetic syndromes including Birt-Hogg-Dube (BHD) and tuberous sclerosis complex (TSC). ChRCC has a distinct accumulation of abnormal mitochondria, accompanied by characteristic chromosomal imbalances and relatively few "driver" mutations. Metabolomic profiling of ChRCC and oncocytomas (benign renal tumors that share pathological features with ChRCC) revealed both similarities and differences between these tumor types, with principal component analysis (PCA) showing a distinct separation. Read More

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July 2018
17 Reads

Sporadic renal angiomyolipoma in a patient with Birt-Hogg-Dubé: chaperones in pathogenesis.

Oncotarget 2018 Apr 24;9(31):22220-22229. Epub 2018 Apr 24.

Department of Urology, SUNY Upstate Medical University, Syracuse, NY, USA.

Birt-Hogg-Dubé (BHD) is an autosomal dominant genetic syndrome caused by germline mutations in the gene that predisposes patients to develop renal tumors. Renal angiomyolipoma (AML) is not a renal tumor sub-type associated with BHD. AML is, however, a common phenotypic manifestation of Tuberous Sclerosis Complex (TSC) syndrome caused by mutations in either the or tumor suppressor genes. Read More

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April 2018
3 Reads

BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.

Hum Mol Genet 2018 May 14. Epub 2018 May 14.

Department of Urology.

Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. Read More

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May 2018
3 Reads

A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt-Hogg-Dubé syndrome.

Orphanet J Rare Dis 2018 May 15;13(1):78. Epub 2018 May 15.

Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, Tokyo, Japan.

Background: Birt-Hogg-Dubé syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pulmonary cysts are innumerable and widely dispersed and cannot all be removed. We recently described a total pleural covering (TPC) that covers the entire visceral pleura with oxidized regenerated cellulose (ORC) mesh. Read More

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May 2018
4 Reads

Adult-Type Rhabdomyoma of the Larynx in Birt-Hogg-Dubé Syndrome: Evidence for a Real Association.

Head Neck Pathol 2018 May 9. Epub 2018 May 9.

Department of Ear, Nose and Throat, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Glossop Road, Sheffield, S10 2JF, UK.

The autosomal dominant Birt-Hogg-Dubé syndrome is known to be associated with skin, lung and kidney lesions. It is caused by heterozygous germline mutations in the folliculin gene and has a high penetrance. We report the case of a 51 year old woman with Birt-Hogg-Dubé syndrome who presented with a laryngeal mass. Read More

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May 2018
2 Reads

Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.

BMC Med Genomics 2018 May 2;11(1):42. Epub 2018 May 2.

Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.

Background: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. Read More

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May 2018
2 Reads

Renal Manifestation of Birt-Hogg-Dubé Syndrome Depicted by 18F-fludeoxyglucose Positron Emission Tomography/Computed Tomography in a Patient with Hurtle Cell Thyroid Malignancy.

World J Nucl Med 2018 Apr-Jun;17(2):123-125

Department of Nuclear Medicine, Royal Liverpool University Hospital, Liverpool, Merseyside, UK.

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant genetic disorder characterized by small papular skin lesions (fibrofolliculomas) causing susceptibility to kidney cancer, renal and pulmonary cysts, spontaneous pneumothoraces, and several noncutaneous tumors. We report a case of a 67-year-old woman, with a previous history of right hemithyroidectomy for adenomatous lesion. She presented with a swelling in the right thyroid bed that on subsequent biopsy revealed features of metastatic carcinoma. Read More

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May 2018
4 Reads

[A Case of Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dubé Syndrome].

Hinyokika Kiyo 2018 Mar;64(3):107-110

The Department of Urology, Kobe City Medical Center General Hospital.

A 61-year-old man with a left renal mass, which was detected by ultrasound during a routine health examination, was referred to our department. The patient had a surgical history of two pneumothorax operations, and the patient's brother also had a history of pneumothorax surgery. A case of Birt-Hogg-Dubé (BHD) syndrome was suspected based on patient history. Read More

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March 2018
2 Reads

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.

Authors:
Eamonn R Maher

World J Urol 2018 Dec 21;36(12):1891-1898. Epub 2018 Apr 21.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre, Cambridge, CB2 0QQ, UK.

Purpose: Genetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC), with around 3% of cases having a family history. A greater knowledge of the genetics of inherited RCC has the potential to translate into novel therapeutic targets for sporadic RCC.

Methods: A literature review was performed summarising the current knowledge on hereditary RCC diagnosis, surveillance and management. Read More

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December 2018

Familial Birt-Hogg-Dubé Syndrome.

QJM 2018 Apr 14. Epub 2018 Apr 14.

Tallaght Hospital, Tallaght, Dublin 24, Ireland.

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April 2018
7 Reads

Cystic Kidney Diseases From the Adult Nephrologist's Point of View.

Front Pediatr 2018 22;6:65. Epub 2018 Mar 22.

Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.

Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease. However, there are various cystic kidney diseases, the onset of which occurs at different times in life and depends on the type of the disease and the causative genes involved. Read More

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March 2018
1 Read

Imaging findings of hereditary renal tumors, a review of what the radiologist should know.

Eur J Radiol 2018 Apr 2;101:8-16. Epub 2018 Feb 2.

Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

It is estimated that up to 8% of currently diagnosed renal cancers are part of a hereditary syndrome. The radiologist may be the first person to associate a renal tumor presenting during an imaging study to other manifestations of a hereditary syndrome. This diagnosis can have broad implications for the patient but also for other family members. Read More

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April 2018
9 Reads

Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.

BMC Med Genet 2018 03 16;19(1):45. Epub 2018 Mar 16.

Institute of Human Genetics, University Hospital, Ludwig Maximilian University of Munich, Goethestr. 29, D-80336, Munich, Germany.

Background: Birt-Hogg-Dubé syndrome is a genetic syndrome caused by mutations in the FLCN gene. The main symptoms are lung bullae and pneumothorax, benign and malignant kidney tumors, and facial fibrofolliculoma. The risk of pneumothorax is considerable between ages 20-40 years, but decreases markedly after this age range and first-time pneumothorax after age 50 years is rare. Read More

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March 2018
1 Read

Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome.

J Dtsch Dermatol Ges 2018 Mar;16(3):278-283

Interdisciplinary Clinic for Birt-Hogg-Dubé syndrome, Institute of Clinical Radiology, University Medical Center, Ludwig Maximilians University, Munich, Germany.

Birt-Hogg-Dubé syndrome (BHD, also referred to as Hornstein-Knickenberg syndrome) is an autosomal dominant tumor syndrome caused by mutations in the FLCN gene located on chromosome 17. Depending on their age, patients with BHD may exhibit various clinical signs and symptoms. Disease severity can vary greatly among members of the same family. Read More

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March 2018
2 Reads

Birt-Hogg-Dubé-Syndrom: ein zu selten diagnostiziertes erbliches Tumorsyndrom.

J Dtsch Dermatol Ges 2018 Mar;16(3):278-284

Interdisziplinäre Sprechstunde für Birt-Hogg-Dubé-Syndrom, Institut für Klinische Radiologie, Klinikum der Ludwig-Maximilians-Universität München.

Das Birt-Hogg-Dubé-Syndrom (BHD-Syndrom, eigentlich Hornstein-Knickenberg- Syndrom) ist ein autosomal dominant erbliches Tumorsyndrom, welches durch Mutationen im FLCN-Gen auf Chromosom 17 verursacht wird. Patienten mit BHD-Syndrom können altersabhängig verschiedene Symptome zeigen, deren Ausprägung auch innerhalb einer Familie unterschiedlich schwer sein kann. Ein frühes Symptom sind basal betonte Lungenzysten, welche Ursache wiederholter Spontanpneumothoraces sein können. Read More

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March 2018
1 Read

Morphological clues to the appropriate recognition of hereditary renal neoplasms.

Semin Diagn Pathol 2018 May 14;35(3):184-192. Epub 2018 Feb 14.

Department of Pathology and Laboratory Medicine, University of Tennessee Health Sciences, Memphis, USA; Department of Urology, University of Tennessee Health Sciences, Memphis, USA.

An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma. Awareness of these clinically distinctive sub-types and their associated histologic clues will prompt the pathologist for further immunohistochemical or molecular work up, to look for clinical information to support the suspected diagnosis of familial cancer, to alert managing physician/s to look for stigmata of history of familial cancer, which will permit triaging patients and their families for appropriate genetic counseling. Read More

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May 2018
2 Reads

Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.

Mol Genet Genomic Med 2018 05 13;6(3):332-338. Epub 2018 Feb 13.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.

Background: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported.

Methods: To explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families. Read More

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Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome.

Arch Bronconeumol 2018 Jan 31. Epub 2018 Jan 31.

Servicio de Cirugía Torácica, Hospital Clínic, Barcelona, España.

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January 2018

[Birt-Hogg-Dubé syndrome is a rare but important cause of pneumothorax].

Ugeskr Laeger 2018 01;180(5)

Birt-Hogg-Dubé syndrome (BHD) is an autosomal-dominant genodermatosis manifesting as a multisystemic disorder. The most common presentation of pulmonary involvement is spontaneous pneumothorax, and it has recently been estimated, that up to 5-10% of patients with primary spontaneous pneumothorax have underlying BHD. The purpose of this case report is to stress the paramount importance of a thorough family history in patients with spontaneous pneumothorax and to recommend, that patients with a spontaneous pneumothorax and a personal or family history of pneumothorax should be screened for BHD. Read More

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January 2018
3 Reads

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.

BMC Med Genet 2018 01 22;19(1):14. Epub 2018 Jan 22.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.

Background: Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer.

Methods: Genomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Read More

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January 2018
6 Reads

Hereditary kidney cancer syndromes: Genetic disorders driven by alterations in metabolism and epigenome regulation.

Cancer Sci 2018 Mar 15;109(3):581-586. Epub 2018 Feb 15.

Department of Urology, Yokohama City University, Yokohama, Japan.

Although hereditary kidney cancer syndrome accounts for approximately five percent of all kidney cancers, the mechanistic insight into tumor development in these rare conditions has provided the foundation for the development of molecular targeting agents currently used for sporadic kidney cancer. In the late 1980s, the comprehensive study for hereditary kidney cancer syndrome was launched in the National Cancer Institute, USA and the first kidney cancer-associated gene, VHL, was identified through kindred analysis of von Hippel-Lindau (VHL) syndrome in 1993. Subsequent molecular studies on VHL function have elucidated that the VHL protein is a component of E3 ubiquitin ligase complex for hypoxia-inducible factor (HIF), which provided the basis for the development of tyrosine kinase inhibitors targeting the HIF-VEGF/PDGF pathway. Read More

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March 2018
3 Reads

Birt-Hogg-Dubé syndrome: spontaneous pneumothorax as a first symptom.

BMJ Case Rep 2018 Jan 9;2018. Epub 2018 Jan 9.

Department of Medicine, Vejle Hospital, Vejle, Denmark.

Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterised by benign cutaneous lesions, lung cysts, increased risk of spontaneous pneumothorax and renal cancer. It shows great heterogenous presentation within and between affected families. We report a case of a Danish female patient with recurrent pneumothoraces as the first symptom of BHDS. Read More

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January 2018
2 Reads

Renal hybrid oncocytic/chromophobe tumor associated with multiple schwannomas: Case report and literature review.

Medicine (Baltimore) 2017 Dec;96(48):e8939

Department of Urology.

Rationale: Renal hybrid oncocytic/chromophobe tumors (HOCTs) are benign tumors containing a mixture of cells with features of chromophobe renal cell carcinoma (CHRCC) and renal oncocytoma (RO). Sporadic HOCT, which means HOCT occurs in patients without Birt-Hogg-Dubé syndrome (BHDS) or renal oncocytosis, is extremely rare. In this article, we would report a new case of a patient with both sporadic HOCT and multiple Schwannomas, which is even rarer than simplex sporadic HOCT. Read More

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December 2017
9 Reads

Recurrent renal cancer in Birt-Hogg-Dubé syndrome: A case report.

Int J Surg Case Rep 2018 28;42:75-78. Epub 2017 Nov 28.

Department of Surgery, Aga Khan University, Karachi, Pakistan. Electronic address:

Introduction: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disease. It is caused by constitutional mutations in the FLCN gene. Since BHDS is a rare syndrome therefore it is unknown to many physicians. Read More

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November 2017
7 Reads

Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-Dubé syndrome.

PLoS One 2017 8;12(12):e0188771. Epub 2017 Dec 8.

Divisions of Respiratory Medicine, Juntendo University Faculty of Medicine & Graduate School of Medicine, Bunkyo-Ku, Tokyo, Japan.

Many groups developed the methods to quantitatively analyze low attenuation area (LAA) on chest CT in patients with cystic lung diseases. Especially in COPD, it was reported that the cumulative size distribution of LAA clusters follows a power law characterized by the exponent D, which reflect the fractal dimension of terminal airspace geometry. We hypoyhesized that the quantitative charateristics of LAA clusters including fractal property might indicate the different features of the progression of cysts in cystic lung diseases. Read More

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December 2017
7 Reads

Inherited skin tumour syndromes.

Clin Med (Lond) 2017 Dec;17(6):562-567

Institute of Genetic Medicine, Centre for Life, Newcastle upon Tyne, UK.

This article provides an overview of selected genetic skin conditions where multiple inherited cutaneous tumours are a central feature. Skin tumours that arise from skin structures such as hair, sweat glands and sebaceous glands are called skin appendage tumours. These tumours are uncommon, but can have important implications for patient care. Read More

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December 2017
3 Reads

Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function.

Respiration 2017 23;94(6):467-485. Epub 2017 Nov 23.

Cystic lung diseases constitute a distinct group of rare lung disorders, among which two result from monogenic defects affecting tumor suppressor genes: lymphangioleiomyomatosis, either sporadic or associated with tuberous sclerosis complex, and Birt-Hogg-Dubé syndrome. These disorders have similarities in their clinical expression, including occurrence in young adults, multiple pulmonary cysts, recurrent pneumothorax, skin hamartomas, and renal tumors. However, they markedly differ in their gender distribution, pathogenesis, disease course, and prognosis. Read More

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August 2018
2 Reads

Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts.

J Dermatol Sci 2018 Jan 2;89(1):77-84. Epub 2017 Nov 2.

Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, Tokyo, Japan; The Study Group for Pneumothorax and Cystic Lung Diseases, Tokyo, Japan.

Background: Birt-Hogg-Dubé syndrome (BHDS) (OMIM #135150) is an autosomal dominant disease, characterized by fibrofolliculomas (FFs) of the skin, pulmonary cysts with/without pneumothorax, and renal tumors. The prevalence of skin manifestations reported for Japanese BHDS patients is lower (<30%) compared with that of Western countries (75∼90%), which appear to be underestimated.

Objective: To precisely examine the prevalence of skin lesions with dermoscopy and histopathology with reference to genetic analyses. Read More

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January 2018
4 Reads

Emerging entities in renal cell neoplasia: thyroid-like follicular renal cell carcinoma and multifocal oncocytoma-like tumours associated with oncocytosis.

Pathology 2018 Jan 11;50(1):24-36. Epub 2017 Nov 11.

Department of Pathology and Molecular Medicine, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.

The list of accepted entities of renal cell neoplasia has burgeoned since the turn of the century through recognition of rare tumour types and the discovery of genetic mutations driving renal neoplasia syndromes. This growth has not finished and in this report we present examples of each of these types which were not included in the 2016 World Health Organization classification of renal neoplasia, but are candidates for inclusion in the next edition of the classification. Thyroid-like follicular renal cell carcinoma is a rare tumour type with a distinctive microscopic appearance resembling follicles of the thyroid gland. Read More

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January 2018
3 Reads

Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene.

Korean J Thorac Cardiovasc Surg 2017 Oct 5;50(5):386-390. Epub 2017 Oct 5.

Departments of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea.

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. Read More

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October 2017
25 Reads

Biphasic papillary renal cell carcinoma is a rare morphological variant with frequent multifocality: a study of 28 cases.

Histopathology 2018 Apr 24;72(5):777-785. Epub 2018 Jan 24.

Charles University, Pilsen, Czech Republic.

Aims: To further characterise biphasic squamoid renal cell carcinoma (RCC), a recently proposed variant of papillary RCC.

Methods And Results: We identified 28 tumours from multiple institutions. They typically showed two cell populations-larger cells with eosinophilic cytoplasm and higher-grade nuclei, surrounded by smaller, amphophilic cells with scanty cytoplasm. Read More

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April 2018
23 Reads
3.453 Impact Factor

Birt-Hogg-Dubé Syndrome: Another Battle for a Retired Navy Seal.

Mil Med 2017 05;182(5):e1820-e1822

Dermatology Service, Walter Reed National Military Medical Center, 8901 Rockville Pike, Bethesda, MD 20889.

Birt-Hogg-Dubé syndrome is an autosomal dominant cancer syndrome characterized by upper torso and facial fibrofolliculomas, acrochordons, pneumothorax, and renal cell carcinoma. Although a rare syndrome, its prevalence is likely underestimated. Additionally, since it presents in patients' 20s or 30s, otherwise healthy members of the military may be affected, as with the index patient discussed in this case report. Read More

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May 2017
4 Reads

Familial Multiple Trichodiscomas: Case Report and Concise Review.

Cureus 2017 Aug 23;9(8):e1596. Epub 2017 Aug 23.

Department of Dermatology, University of California, San Diego.

Familial multiple trichodiscomas is a condition characterized by multiple asymptomatic skin papules. The inheritance pattern has not been established. The skin lesions usually appear in childhood. Read More

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August 2017
12 Reads

Birt-Hogg-Dubé syndrome: awareness is important!

BMJ Case Rep 2017 Oct 23;2017. Epub 2017 Oct 23.

Department of Pathology, Hospitais da Universidade de Coimbra, Coimbra, Portugal.

Birt-Hogg-Dubé (BHD) is a rare syndrome of inherited renal cell carcinomas, characterised by cutaneous lesions and pulmonary cysts and pneumothorax in a vast majority of the patients. Awareness of this syndrome is important in order to refer patients for genetic counselling and personalised follow-up as soon as possible. We describe a case of a 30-year-old female referred to our institution due to incidental discovery of solid bilateral renal masses. Read More

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October 2017
3 Reads