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Birt-hogg-dube

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https://www.readbyqxmd.com/read/29548312/delayed-diagnosis-of-birt-hogg-dub%C3%A3-syndrome-due-to-marked-intrafamilial-clinical-variability-a-case-report
#1
E C Sattler, O K Steinlein
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. Fibrofolliculomas usually occur between ages 35 and 45 years, while the risk for kidney cancer increases steadily with age, starting in young adulthood...
March 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29537177/birt-hogg-dub%C3%A3-syndrome-an-underdiagnosed-genetic-tumor-syndrome
#2
REVIEW
Ortrud K Steinlein, Birgit Ertl-Wagner, Thomas Ruzicka, Elke C Sattler
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. Early symptoms include basal lung cysts, which can lead to recurrent spontaneous pneumothoraces. The majority of patients (> 90 %) develop multiple fibrofolliculomas, especially on the face and upper trunk, in the second or third decade of life...
March 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/29537155/birt-hogg-dub%C3%A3-syndrom-ein-zu-selten-diagnostiziertes-erbliches-tumorsyndrom
#3
REVIEW
Ortrud K Steinlein, Birgit Ertl-Wagner, Thomas Ruzicka, Elke C Sattler
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. Die Mehrheit der Patienten (> 90 %) entwickelt im mittleren Lebensalter zahlreiche Fibrofollikulome vor allem im Gesicht und am Oberkörper...
March 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/29469743/treatment-of-selective-antibody-deficiency-with-ivig-resulting-in-decreased-frequency-of-streptococcal-infection-and-improvement-of-guttate-psoriasis
#4
Maulik M Dhandha, Elaine C Siegfried, Alan P Knutsen
The association between guttate psoriasis and infection with group A Streptococcus (GAS) has been well established in the medical literature. However, responses to treatments aimed at GAS eradication such as systemic antibiotics or tonsillectomy are inconsistent. Further complicating treatment recommendations for a disease with a suspected microbial trigger, the standard therapy for severe psoriasis is with systemic immunosuppressant medications. This case report illustrates the role of GAS as a trigger for acute onset severe psoriasis in a child whose skin disease initially worsened with a trial of methotrexate...
August 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29454577/morphological-clues-to-the-appropriate-recognition-of-hereditary-renal-neoplasms
#5
REVIEW
Holger Moch, Riuko Ohashi, Jatin S Gandhi, Mahul B Amin
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...
February 14, 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29439288/childhood-pneumothorax-in-birt-hogg-dub%C3%A3-syndrome-a-cohort-study-and-review-of-the-literature
#6
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
#7
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
#8
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
#9
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
#10
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
#11
REVIEW
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
#12
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...
2018: 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
#13
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
#14
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
#15
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...
January 2018: 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
#16
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...
January 2018: Pathology
https://www.readbyqxmd.com/read/29124032/birt-hogg-dub%C3%A3-syndrome-manifesting-as-spontaneous-pneumothorax-a-novel-mutation-of-the-folliculin-gene
#17
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
#18
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
#19
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
#20
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
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