Birt-hogg

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Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant condition characterized by multiple pulmonary cysts, fibrofolliculomas, and renal cell carcinoma. The typical presentations leading to diagnosis include fibrofolliculomas and spontaneous pneumothoraxes. We present a case of a 52-year-old Chinese male who was diagnosed with BHDS after the incidental pickup of an echogenic heterogenous lesion on an abdominal ultrasound done to investigate an abnormal liver function test. The presence of renal cell carcinoma with cystic pulmonary disease should prompt the clinician to consider the diagnosis of BHDS...

BACKGROUND: Birt-Hogg-Dube syndrome (BHDS), also known as Hornstein-Knickenberg syndrome is a rare, autosomal dominant genetic disorder characterized by a triad of clinical manifestations: skin fibrofolliculomas, renal tumors, and multiple pulmonary cysts. The exact incidence of BHDS syndrome is unknown. This hereditary syndrome is caused by mutations in the folliculin (FLCN) gene, located on chromosome 17p11.2, which encodes the folliculin protein. OBJECTIVE: This case report aims to highlight the importance of increased vigilance and long-term follow-up in BHDS patients, even decades after surgical intervention, to detect and manage potential pulmonary complications effectively...

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder characterized by diffuse pulmonary cysts often leading to recurrent spontaneous pneumothorax, cutaneous fibrofolliculomas or trichodiscomas, and a variety of renal cell cancers. It is caused by pathogenic variants in the FLCN gene located on chromosome 17p11.2. Although an increasing number of patients with BHD syndrome are being recognized in China, the missed diagnosis and delayed diagnosis are still common. In addition, appropriate management is difficult for most of them...

So far, confusion exists regarding the question of whether hereditary perifollicular fibromas and fibrofolliculomas can be distinguished from each other. Here, histopathological arguments are presented to clarify this terminological problem. In 1977, Birt et al. described a large kindred affected with hereditary multiple "fibrofolliculomas," which they thought were "a hitherto unrecognized pilar hamartoma," but they never claimed the fibrofolliculomas were part of a syndrome. A careful microscopic comparison shows, however, that the tumors are clinically and histopathologically identical to perifollicular fibromas, as first described by Burnier and Rejšek in 1925...

Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt-Hogg-Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC) development in BHD (Birt-Hogg-Dubé) patients has a very high incidence; thus, identifying this rare syndrome at early stages and preventing metastatic spread is crucial. Over the last decade, the advancement of Next Generation Sequencing (NGS) and the implementation of multigene panels for hereditary cancer syndromes (HCS) have led to a subsequent focus on additional genes and variants, including those of uncertain significance (VUS)...

PEComas are a family of mesenchymal neoplasms composed of histologically distinctive perivascular epithelioid cells which demonstrate myomelanocytic differentiation. PEComas of the adrenal gland are very rare and can represent a considerable diagnostic challenge given their morphologic overlap with more common adrenal cortical neoplasms. We present the clinicopathologic features of 7 primary adrenal PEComas. The cohort comprised 5 male and 2 female patients with a median age of 63 years (range: 31 to 71 y)...

The authors present a rare case of Birt-Hogg-Dubé (BHD) syndrome that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD, despite the patient's history of pneumothoraces. This female patient complained of numerous recurrent, small skin-colored growths on the face and neck and patchy hypopigmentation from the multiple treatments she had to undergo for her "bumpy skin." She also suffered 4 spontaneous pneumothoraces. Following histopathologic and genetic testing, the patient was diagnosed with BHD...

Ectopic salivary gland tissue is the presence of normal salivary gland tissue developing outside of the major and minor salivary glands. We present a rare, incidental case of lingual ectopic salivary gland tissue in a 52-year-old male with known Birt-Hogg-Dubé syndrome, diagnosed on imaging as tongue mass. Excisional biopsy of the left tongue base lesion was performed and histologic examination revealed ectopic salivary gland tissue. We found only a few cases in literature of ectopic salivary gland tissue situated in the tongue...

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BACKGROUND: The clinical pulmonary manifestations and genetic features of Birt-Hogg-Dubé syndrome (BHDS) in Asian patients remained unclear. We aimed to clarify the clinical features of BHDS-associated pneumothorax (PTX) and retrospectively investigate potential contributing factors in the largest Asian cohort to date. METHODS: We reviewed the clinical and genetic data collected in 2006-2017, from the BHDS patients who were Asian and presented with pulmonary cysts with or without a history of PTX...

Birt-Hogg-Dubé syndrome (BHD) is a genetic disorder typically characterized by pulmonary cysts, cutaneous fibrofolliculomas, and renal tumors. We report a case of an 87-year-old male patient with a known diagnosis of BHD and a large pericardial cyst who presented to the emergency room with chest pain. BHD is classically associated with pulmonary cysts and not pericardial cysts. In this report, we highlight the potential of pericardial cysts to independently cause retrosternal pain resembling angina, while also mentioning that BHD too can cause chest pain through the rupture of a pulmonary cyst leading to spontaneous pneumothorax...

To date, over 200 families with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and over 600 families with Birt-Hogg-Dubé (BHD) syndrome have been reported, with low incidence. Here, we describe a patient with suspected rare HLRCC complicated by BHD syndrome. The proband (II1) had characteristic cutaneous leiomyoma-like protrusions on the neck and back, a left renal mass and multiple right renal, liver and bilateral lung cysts. Three family members (I1, II2, II3) had a history of renal cancer and several of the aforementioned clinical features...

RATIONALE: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal recessive genetic disorder caused mainly by mutations in the tumor suppressor FLCN gene. Tumors caused by FLCN mutations are frequently benign and develop in skin, lungs, kidney, and other organs, leading to a variety of phenotypes that make early diagnoses of BHD challenging. PATIENT CONCERNS: A 51-year-old female was admitted to Shanghai Seventh People Hospital due to chest congestion and dyspnea that had persisted for 3 years and aggravated for 1 month...

Birt-Hogg-Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and renal tumors. We prospectively enrolled thirty-one subjects from four South Korean institutions with typical lung cysts, and next-generation sequencing was conducted. We prospectively enrolled thirty-one subjects from four Korean institutions with typical lung cysts. Next-generation sequencing was performed to investigate mutations in the following genes: FLCN, TSC1, TSC2, CFTR, EFEMP2, ELN, FBLN5, LTBP4, and SERPINA1...

BACKGROUND: Several hereditary disorders, with highly variable and sometimes difficult to recognize manifestations, can present with a spontaneous pneumothorax. Options to perform DNA-testing have changed rapidly, as a result of which physicians of diverse disciplines are coming into contact with hereditary disorders. CASE DESCRIPTION: Two patients with a history of multiple spontaneous pneumothoraxes were seen at the outpatient clinic of the department of Clinical Genetics...

OBJECTIVES: To characterize the clinical manifestations and genetic basis of a familial cancer syndrome in patients with lipomas and BHD-like clinical manifestations including fibrofolliculomas and trichodiscomas and kidney cancer. METHODS: Genomic analysis of blood and renal tumor DNA was performed. Inheritance pattern, phenotypic manifestations, and clinical and surgical management were documented. Cutaneous, subcutaneous and renal tumor pathologic features were characterized...

No abstract text is available yet for this article.

In autosomal dominant skin disorders, pronounced mosaic involvement may sometimes occur in the neonate, originating in a heterozygous embryo from early loss of heterozygosity, probably during the first week after fertilization. In biallelic phenotypes, such overlaying mosaic involvement may coexist with disseminated mosaicism, for example, in neurofibromatosis or tuberous sclerosis. In other phenotypes, however, classical nonsegmental involvement tends to appear much later, which is why the superimposed mosaic is a heralding feature...

Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic disorder characterized by cutaneous, pulmonary, and renal manifestations. We present a unique case in which a combination of multiple chronic illnesses, genetic testing, and significant family history led to a diagnosis of BHDS. A 72-year-old male patient presented to their primary care physician with a persistent cough of four months and was admitted to the emergency department after the discovery of a left hydropneumothorax. The patient's medical history was significant for recurrent spontaneous bilateral pneumothoraces diagnosed over 20 years ago, chronic obstructive pulmonary disease (COPD), and many other systemic illnesses...