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https://www.readbyqxmd.com/read/29439288/childhood-pneumothorax-in-birt-hogg-dub%C3%A3-syndrome-a-cohort-study-and-review-of-the-literature
#1
Marianne Geilswijk, Elisabeth Bendstrup, Mia Gebauer Madsen, Mette Sommerlund, Anne-Bine Skytte
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...
February 13, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29397232/recurrent-spontaneous-pneumothorax-as-a-manifestation-of-birt-hogg-dube-syndrome
#2
Juan J Fibla Alfara, Laureano Molins López-Rodó, Jorge Hernández Ferrández, Angela Guirao Montes
No abstract text is available yet for this article.
January 31, 2018: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/29393029/-birt-hogg-dub%C3%A3-syndrome-is-a-rare-but-important-cause-of-pneumothorax
#3
Laurits Frøssing, Lars Pedersen, Saher Shaker
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...
January 29, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29357828/birt-hogg-dub%C3%A3-syndrome-in-two-chinese-families-with-mutations-in-the-flcn-gene
#4
Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang, Hong Jiang
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. Genetic analysis was performed by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations of these two families...
January 22, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29321196/birt-hogg-dub%C3%A3-syndrome-spontaneous-pneumothorax-as-a-first-symptom
#5
Kirse Bock, Zuzana Lohse, Poul Henning Madsen, Ole Hilberg
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. Over the years, she developed skin changes, and a family history of skin changes, pneumothoraces and renal cancer was discovered. BHDS was suspected, a genetic analysis was performed and a pathogenic variation c...
January 9, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29310387/renal-hybrid-oncocytic-chromophobe-tumor-associated-with-multiple-schwannomas-case-report-and-literature-review
#6
Guanghua Liu, Yatong Li, Zhuoran Li, Jingmin Zhou, Zhen Huo, Zhigang Ji
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. PATIENT CONCERNS: A 48-year-old female was noted with multiple left-kidney masses and a history of multiple Schwannomas...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29223882/recurrent-renal-cancer-in-birt-hogg-dub%C3%A3-syndrome-a-case-report
#7
Hammad Ather, Nida Zahid
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. However, it is important to identify this rare syndrome at early stages because incidence of renal cancer in BHD patients is very high and its detection at early stages can prevent its metastasis. Hence, we want to present a case of BHDS and draw the attention of the treating physician to this rare inherited disorder and discuss its appropriate diagnosis and management...
November 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29220357/difference-of-the-progression-of-pulmonary-cysts-assessed-by-computed-tomography-among-copd-lymphangioleiomyomatosis-and-birt-hogg-dub%C3%A3-syndrome
#8
Kazunori Tobino, Toyohiro Hirai, Takeshi Johkoh, Kiminori Fujimoto, Atsushi Kawaguchi, Noriyuki Tomiyama, Kazuhisa Takahashi, Kuniaki Seyama
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...
2017: PloS One
https://www.readbyqxmd.com/read/29169151/cystic-lung-disease-in-genetic-syndromes-with-deficient-tumor-suppressor-gene-function
#9
Cécile Daccord, Laurent P Nicod, Romain Lazor
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...
November 23, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/29157599/skin-lesions-of-birt-hogg-dub%C3%A3-syndrome-clinical-and-histopathological-findings-in-31-japanese-patients-who-presented-with-pneumothorax-and-or-multiple-lung-cysts
#10
Chikako Iwabuchi, Hiroki Ebana, Akira Ishiko, Azusa Negishi, Teruaki Mizobuchi, Toshio Kumasaka, Masatoshi Kurihara, Kuniaki Seyama
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...
November 2, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29132724/emerging-entities-in-renal-cell-neoplasia-thyroid-like-follicular-renal-cell-carcinoma-and-multifocal-oncocytoma-like-tumours-associated-with-oncocytosis
#11
REVIEW
John N Eble, Brett Delahunt
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...
November 10, 2017: Pathology
https://www.readbyqxmd.com/read/29124032/birt-hogg-dub%C3%A3-syndrome-manifesting-as-spontaneous-pneumothorax-a-novel-mutation-of-the-folliculin-gene
#12
Kyung Soo Kim, Hang Jun Choi, Woori Jang, Hyojin Chae, Myungshin Kim, Seok Whan Moon
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 FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.
October 2017: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29119638/biphasic-papillary-renal-cell-carcinoma-is-a-rare-morphologic-variant-with-frequent-multifocality-a-study-of-28-cases
#13
Kiril Trpkov, Daniel Athanazio, Cristina Magi-Galluzzi, Helene Yilmaz, David Clouston, Abbas Agaimy, Sean R Williamson, Fadi Brimo, Jose I Lopez, Monika Ulamec, Nathalie Rioux-Leclercq, Maysoun Kassem, Nilesh Gupta, Arndt Hartmann, Xavier Leroy, Samir Al Bashir, Asli Yilmaz, Ondřej Hes
AIMS: To further characterize biphasic squamoid renal cell carcinoma (RCC), a recently proposed variant of papillary RCC. METHODS AND RESULTS: We identified 28 tumors from multiple institutions. They typically demonstrated two cell populations - larger cells with eosinophilic cytoplasm and higher-grade nuclei, surrounded by smaller, amphophilic cells with scanty cytoplasm. The dual morphology was variable (median 72.5% of tumor, range 5-100%); emperipolesis was found in all cases...
November 8, 2017: Histopathology
https://www.readbyqxmd.com/read/29067220/familial-multiple-trichodiscomas-case-report-and-concise-review
#14
Yun Tong, Alvin B Coda, Jeremy A Schneider, Tissa R Hata, Philip R Cohen
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. The diagnosis of the cutaneous papules is established by pathologic evaluation. Birt-Hogg-Dubé syndrome is excluded by not detecting any aberration in the folliculin gene locus. Including our patient, 15 index individuals and their families are described. There is no systemic organ involvement or associated malignancies in individuals with this condition...
August 23, 2017: Curēus
https://www.readbyqxmd.com/read/29066638/birt-hogg-dub%C3%A3-syndrome-awareness-is-important
#15
Rui Caetano Oliveira, Edgar Tavares, Vítor Sousa, Arnaldo Figueiredo
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. Renal biopsies were consistent with chromophobe tumour, and bilateral nephrectomy was performed...
October 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28981362/the-abcs-of-bhd-an-in-depth-review-of-birt-hogg-dub%C3%A3-syndrome
#16
REVIEW
Shiva Gupta, Hyunseon C Kang, Dhakshinamoorthy Ganeshan, Ajaykumar Morani, Rabindra Gautam, Peter L Choyke, Vikas Kundra
OBJECTIVE: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant inherited syndrome involving multiple organs. In young patients, renal neoplasms that are multiple, bilateral, or both, such as oncocytomas, chromophobe renal cell carcinoma (RCC), hybrid chromophobe RCC-oncocytomas, clear cell RCC, and papillary RCC, can suggest BHD syndrome. Extrarenal findings, including dermal lesions, pulmonary cysts, and spontaneous pneumothoraces, also aid in diagnosis. CONCLUSION: Radiologists may be one of the first medical specialists to suggest the diagnosis of BHD syndrome...
December 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28970150/flcn-the-causative-gene-for-birt-hogg-dub%C3%A3-syndrome
#17
REVIEW
Laura S Schmidt, W Marston Linehan
Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors. Although the encoded protein, folliculin (FLCN), has no sequence homology to known functional domains, x-ray crystallographic studies have shown that the C-terminus of FLCN has structural similarity to DENN (differentially expressed in normal cells and neoplasia) domain proteins that act as guanine nucleotide exchange factors (GEFs) for small Rab GTPases...
January 15, 2018: Gene
https://www.readbyqxmd.com/read/28960698/novel-clinical-scoring-system-to-identify-patients-with-pneumothorax-with-suspicion-for-birt-hogg-dub%C3%A3-syndrome
#18
Hiroki Ebana, Teruaki Mizobuchi, Masatoshi Kurihara, Etsuko Kobayashi, Takahiro Haga, Shoichi Okamoto, Kazuhisa Takahashi, Kuniaki Seyama
BACKGROUND AND OBJECTIVE: Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary disease that presents with multiple lung cysts and pneumothorax (PTX). Although some reports propose that findings from chest computed tomography enable one to distinguish BHDS from primary spontaneous pneumothorax (PSP), it is still unclear whether clinical features are useful for identifying patients with suspicion of BHDS from those with PTX. METHODS: We retrospectively reviewed the medical records of patients with PTX who underwent video-assisted thoracoscopic surgery at Nissan Tamagawa Hospital from January 2012 to December 2015...
September 27, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28891800/a-novel-heterozygous-mutation-in-the-birt-hogg-dub%C3%A3-syndrome
#19
Juan Gómez Rivas, Diego M Carrión, Sergio Alonso Y Gregorio, Mario Álvarez-Maestro, Ángel Tabernero Gómez, Jesus Cisneros Ledo
OBJETIVE: Our aim is to present a novel mutation of the Birt-Hogg-Dubé Syndrome. METHODS: We present a case report of a 70-year-old male with three solid nodulary lesions of 4, 2.6, and 3 cm each in the right kidney, and two lesions of 1.5 and 1.3 cm in the left kidney. RESULTS: Needle biopsy was performed. The pathological analysis of right kidney lesions revealed a renal tumor suggestive of chromophobe renal cell carcinoma and medullar tumor with zones that suggested oncocytosis...
September 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28839995/clinical-and-genetic-study-of-a-large-chinese-family-presented-with-familial-spontaneous-pneumothorax
#20
Huajie Xing, Yanguo Liu, Guanchao Jiang, Xiao Li, Yanyan Hou, Fan Yang, Jun Wang
BACKGROUND: Familial spontaneous pneumothorax (FSP) is an inherited disease, and Birt-Hogg-Dubé (BHD) syndrome is its leading cause. BHD syndrome is an autosomal dominant disorder characterized by pulmonary cysts, spontaneous pneumothorax, renal cancer, and skin fibrofolliculomas. It is caused by germline mutations in the FLCN gene. Thus far a variety of mutations have been reported; however, the unique characteristics of BHD syndrome-related FSP are still unclear. METHOD: We reviewed the family history of a large Chinese family that presented with FSP...
July 2017: Journal of Thoracic Disease
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