scholarly journals A 29-Year-Old Woman With Cough, Dry Eyes, Pulmonary Cysts, and Nodules

CHEST Journal ◽  
2021 ◽  
Vol 160 (2) ◽  
pp. e195-e198
Author(s):  
Mohamed Omballi ◽  
Aliaksandr Ramaniuk ◽  
Divya C. Patel ◽  
Ali Ataya
Keyword(s):  
Dry Eyes ◽  
Pulmonary Cysts

Birt-Hogg-Dubé Syndrome: A Case Report Describing Sonographic Evaluation of Salivary Gland Oncocytomas

2019 ◽  
Vol 2 ◽  
pp. 5
Author(s):  
Kevin Kapcio ◽  
Kamila Skalski ◽  
Vikram Dogra
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Renal Cell ◽  
Autosomal Dominant ◽  
Colonic Polyps ◽  
Sonographic Evaluation ◽  
Parathyroid Adenomas ◽  
Pulmonary Cysts ◽  
Renal Screening ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.

Clinical manifestations and diagnosis of keratoconus. Treatment of iatrogenic keratoconus

2020 ◽  
pp. 37-42
Author(s):  
Fedor Ermolyuk
Keyword(s):  
Research Methods ◽  
Contact Lenses ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Refractive Errors ◽  
Dry Eyes ◽  
Advanced Stages ◽  
Dystrophic Disease ◽  
Iatrogenic Origin ◽  
Binocular Diplopia

Keratoconus is a dystrophic disease of the cornea, when it is thinned with the formation of a conus-like protrusion (protrusion of the cornea). This disease belongs to the group of keratectasia, it has a multifactorial nature and occurs in approximately 25 % of all corneal pathologies. The disease can be either primary, which is based on dystrophic changes in the cornea, or secondary, which develops against the background of prenatal keratitis. Keratoconus of iatrogenic origin, which develops as a result of refractive eye microsurgery, has become widespread during the last 20 years. Most often primary keratoconus manifests during puberty, progresses to 30–40 years, after which its development slows down. An early clinical manifestation of this corneal pathology is a progressive decrease in visual acuity, development of double vision (binocular diplopia) with the development of a strong headache against this background. Monocular polyopia — images and symbols with multiple contours — develops subsequently. Severe dry eyes, itching, photophobia appear in advanced stages. Diagnosis of keratoconus in some cases can be a significant difficulty, since the use of conventional research methods only allow to suspect refractive errors in the form of myopia or astigmatism. It is necessary to take into account the impossibility of correcting visual impairment using conventional methods — glasses or contact lenses — to make correct diagnosis. As a rule, diagnosis of keratoconus requires use of expanded spectrum of instrumental research methods.

scholarly journals Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xiaowen Hu ◽  
Guofeng Zhang ◽  
Xianmeng Chen ◽  
Kai-Feng Xu
Keyword(s):  
Spontaneous Pneumothorax ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Lower Lobe ◽  
Skin Lesions ◽  
Jiangsu Province ◽  
Chinese Patients ◽  
Renal Tumors ◽  
Pulmonary Cysts ◽  
Exon 11

Abstract Objective To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. Methods We identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2008 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded. Results Twenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0 ± 13.9 years (range, 18–84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1–6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%). Conclusions Although BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.

scholarly journals Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Maxim Avanesov ◽  
Lennart Well ◽  
Azien Laqmani ◽  
Thorsten Derlin ◽  
Vincent M. Riccardi ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Multidetector Computed Tomography ◽  
Pulmonary Metastases ◽  
Chromosome 17 ◽  
Smoking History ◽  
Preventive Strategy ◽  
Lung Pathology ◽  
Peripheral Nerve Sheath Tumors ◽  
Pulmonary Manifestations ◽  
Pulmonary Cysts

Abstract Background Diffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics of (NF1)-associated lung manifestations in a large single-center study using multidetector computed tomography (MDCT) and to evaluate the smoking history, patients’ age, genetics, and the presence of malignant peripheral nerve sheath tumors (MPNST) as potential influencing factors for lung pathologies. Methods In this retrospective study, 71 patients with NF1 were evaluated for the presence of distinctive lung manifestations like reticulations, consolidations, type of emphysema, pulmonary nodules and cysts. All patients underwent F-18-FDG PET/CT scans, which were reviewed by two experienced radiologists in consensus. Patients’ subgroups were formed based on their smoking history (current smokers/previous smokers/never smokers), age (< 12 years, 12–18 years, > 18 years), and presence of MPNST (MPNST/no MPNST). In 57 patients (80%), genetic analysis of sequences coding for the neurofibromin on chromosome 17 was performed, which was correlated with different lung pathologies. Results Among all NF1 patients (33 ± 14 years, 56% females), 17 patients (24%) were current smokers and 62 patients (87%) were > 18 years old. Pulmonary cysts, nodules, and paraseptal emphysema were the most common pulmonary findings (35%, 32%, 30%). The presence of pulmonary metastases, MPNST and centrilobular emphysema was associated with smoking. Cysts were observed only in adults, whereas no significant correlation between age and all other pulmonary findings was found (p > 0.05). Presence of MPNST was accompanied by higher rates of intrapulmonary nodules and pulmonary metastasis. Neither the presence nor absence of any of the specific gene mutations was associated with any particular lung pathology (p > 0.05). Conclusions All pulmonary findings in NF1 patients occurred independently from specific mutation subtypes, suggesting that many NF1 mutations can cause various pulmonary pathologies. The presence of pulmonary metastases, MPNST and centrilobular emphysema was associated with smoking, indicating the value of smoking secession or the advice not to start smoking in NF1 patients as preventive strategy for clinicians. For screening of pulmonary manifestations in NF1 patients, an MDCT besides medical history and physical examination is mandatory in clinical routine.

scholarly journals Tear ATG5 as a Potential Novel Biomarker in the Diagnosis of Sjögren Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 71
Author(s):  
Yong-Soo Byun ◽  
Hyun Jung Lee ◽  
Soojung Shin ◽  
Moon Young Choi ◽  
Hyung-Seung Kim ◽  
...  
Keyword(s):  
Ocular Surface ◽  
Area Under The Curve ◽  
Sjögren Syndrome ◽  
Sjogren Syndrome ◽  
Ocular Surface Disease Index ◽  
Dry Eyes ◽  
Potential Biomarker ◽  
Surface Staining ◽  
Breakup Time

Autophagy has been suggested to have an important role in the pathogenesis of Sjögren syndrome (SS). We previously identified that autophagy related 5 (ATG5) was elevated in the tear and conjunctival epithelial cells of SS dry eyes (DE) compared to non-SS DE. The purpose of this study was to investigate the role of tear ATG5 as a potential biomarker in the diagnosis of SS. To confirm this hypothesis, we evaluated the tear ATG5 concentration, and other ocular tests (Schirmer I, tear breakup time (TBUT), ocular surface staining (OSS) score, ocular surface disease index (OSDI)) in SS and non-DE, and compared their diagnostic performance to discriminate SS from non-SS DE. Tear ATG5 showed the greatest area under the curve (AUC = 0.984; 95% CI, 0.930 to 0.999) among the tests, and a 94.6% sensitivity and 93.6% specificity at a cutoff value of >4.0 ng/mL/μg. Our data demonstrated that tear ATG5 may be helpful as an ocular biomarker to diagnose and assess SS. In the future, the diagnostic power of tear ATG for SS should be validated.

scholarly journals Birt–Hogg–Dubé syndrome

2020 ◽  
Vol 29 (157) ◽  
pp. 200042
Author(s):  
Cécile Daccord ◽  
Jean-Marc Good ◽  
Marie-Anne Morren ◽  
Olivier Bonny ◽  
Daniel Hohl ◽  
...  
Keyword(s):  
Index Patient ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Autosomal Dominant Disorder ◽  
Cystic Lung ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
Renal Tumours ◽  
Pulmonary Cysts ◽  
Chronic Respiratory Insufficiency ◽  
Diagnostic Work

Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofolliculomas and renal tumours of various histological types. BHD has no sex predilection and tends to manifest in the third or fourth decade of life. Multiple bilateral pulmonary cysts are found on chest computed tomography in >80% of patients and more than half experience one or more episodes of pneumothorax. A family history of pneumothorax is an important clue, which suggests the diagnosis of BHD. Unlike other cystic lung diseases such as lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis, BHD does not lead to progressive loss of lung function and chronic respiratory insufficiency. Renal tumours affect about 30% of patients during their lifetime, and can be multiple and recurrent. The diagnosis of BHD is based on a combination of genetic, clinical and/or skin histopathological criteria. Management mainly consists of early pleurodesis in the case of pneumothorax, periodic renal imaging for tumour detection, and diagnostic work-up in search of BHD in relatives of the index patient.

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