scholarly journals Renal and Lung Cysts in Birt-Hogg-Dubé Syndrome: A Continuum of the Same Disorder

Cureus ◽  
2021 ◽  
Author(s):  
Jad A Degheili ◽  
Bassem Tanios ◽  
Mouhamad Nasser
Keyword(s):  
Lung Cysts

scholarly journals Unusual phenotypes in patients with a pathogenic germline variant in DICER1

2021 ◽  
Author(s):  
Kateryna Venger ◽  
Miriam Elbracht ◽  
Julia Carlens ◽  
Peter Deutz ◽  
Felix Zeppernick ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Pleuropulmonary Blastoma ◽  
Global Developmental Delay ◽  
Facial Dysmorphism ◽  
Compound Heterozygous ◽  
Incomplete Penetrance ◽  
Developmental Abnormalities ◽  
Lung Cysts ◽  
Developmental Features ◽  
Skeletal Findings

AbstractPathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missense DICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and Wilms’ tumor) syndrome. Here, we report four families with germline DICER1 pathogenic variants in which one member in each family had a more complex phenotype, including skeletal findings, facial dysmorphism and developmental abnormalities. The developmental features occur with a variable expressivity and incomplete penetrance as also described for the neoplastic and dysplastic lesions associated with DICER1 variants. Whole exome sequencing (WES) was performed on all four cases and revealed no further pathogenic or likely pathogenic dominant, homozygous or compound heterozygous variants in three of them. Notably, a frameshift variant in ARID1B was detected in one patient explaining part of her phenotype. This series of patients shows that pathogenic DICER1 variants may be associated with a broader phenotypic spectrum than initially assumed, including predisposition to different tumours, skeletal findings, dysmorphism and developmental abnormalities, but genetic work up in syndromic patients should be comprehensive in order not to miss additional underlying /modifying causes.

scholarly journals Conservative Surgical Management for Pulmonary Hydatid Cyst: Analysis and Outcome of 148 Cases

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Mohammed Aldahmashi ◽  
Mohamed Alassal ◽  
Ibrahim Kasb ◽  
Hany Elrakhawy
Keyword(s):  
Hydatid Cyst ◽  
Bronchopleural Fistula ◽  
Complete Removal ◽  
Conservative Surgery ◽  
Hydatid Cysts ◽  
Rural Regions ◽  
Purse String ◽  
Lung Cysts ◽  
Surgical Methods ◽  
Pulmonary Hydatid Cyst

Background. Hydatid cyst (HC) disease is endemic in many developing countries, like Yemen, Egypt, and Saudi Arabia, especially in the rural regions. The disease has a variable clinical courses and even might be asymptomatic for many years.Objectives. In giant and large pulmonary hydatid cysts, pulmonary resection is the usual method of surgical treatment. In this study, we aimed to evaluate the lung conservative surgery in treatment of cases with giant and large hydatid lung cysts, as an effective method of management.Patients and Methods. Between January 2009 and August 2014, a total of 148 patients with pulmonary hydatid cysts were operated and their data was reviewed retrospectively and analyzed. Out of these cases, 52 (35.14%) cysts with more than 10 cm in diameter and 36 (24.32%) cysts with 5–9 cm were regarded as giant and large hydatid lung cysts, respectively. The small cysts less than 5 cm were presented in 8 (5.4%) cases only; other cases had ruptured cysts. Preservation of the lung tissues during surgery by cystotomy and Capitonnage was our conservative surgical methods of choice.Results. Eight patients developed bronchopleural fistula (BPF); of them, 4 BPFs have healed with chest tube and physiotherapy, but in the other 4 patients reoperation was done for the closure of persistent BPF. No mortality was observed in the present study.Conclusion. We conclude that conservative surgical procedure can achieve complete removal of the pulmonary hydatid cyst. Enucleation of the intact huge cysts is safe. Careful and secured closure of the bronchial communication should be done by purse string or figure-of-8 sutures, with or without Teflon pledgets. These simple procedures are safe, reliable, and successful.

scholarly journals Pneumonectomy for massive ventilated lung cysts.

Thorax ◽  
1981 ◽  
Vol 36 (7) ◽  
pp. 554-556 ◽  
Author(s):  
E D Bateman ◽  
D E Westerman ◽  
R P Hewitson ◽  
A D Ferguson
Keyword(s):  
Lung Cysts

scholarly journals Sudden onset of dyspnea in a woman with skin lesions and lung cysts

Lung India ◽  
2013 ◽  
Vol 30 (2) ◽  
pp. 164
Author(s):  
Akashdeep Singh ◽  
Jaspreet Singh
Keyword(s):  
Skin Lesions ◽  
Sudden Onset ◽  
Lung Cysts

scholarly journals Multiple Lung Cysts Due to pneumocystis jirovecii Pneumonia

2018 ◽  
Vol 57 (1) ◽  
pp. 157-158 ◽  
Author(s):  
Kazuaki Fukushima ◽  
Keishiro Yajima
Keyword(s):  
Pneumocystis Jirovecii ◽  
Lung Cysts

scholarly journals Rapidly Progressive Lung Cysts and Pleural Effusion: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Diana Olsen ◽  
Charlene Molloy ◽  
P. S. Sriram
Keyword(s):  
Endothelial Cells ◽  
Case Report ◽  
Pleural Effusion ◽  
Vascular Endothelial Cells ◽  
Vascular Endothelial ◽  
Review Of The Literature ◽  
Pleural Effusions ◽  
Lung Cysts ◽  
Pulmonary Cysts ◽  
Thin Walled

Angiosarcoma is a rare but highly malignant tumor arising from vascular endothelial cells. Angiosarcoma commonly arises from the heart, liver, breast, and skin including the scalp. Angiosarcoma metastasizing to the lungs can present as either pneumothorax, hemothorax, or pleural effusions. They can rarely present as rapidly enlarging thin-walled pulmonary cysts. A review of the literature is included.

Skin Lesions and Lung Cysts in a Neonate

2012 ◽  
Vol 160 (6) ◽  
pp. 1061-1061.e1 ◽  
Author(s):  
Craig M. Forester ◽  
Jefferson Terry ◽  
Edward Y. Lee ◽  
Tregony Simoneau ◽  
Kenan Haver
Keyword(s):  
Skin Lesions ◽  
Lung Cysts

scholarly journals Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
P. C. Johannesma ◽  
R. J. A. van Moorselaar ◽  
S. Horenblas ◽  
L. E. van der Kolk ◽  
E. Thunnissen ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Positive Family History ◽  
Renal Tumour ◽  
Molecular Testing ◽  
Familial History ◽  
Lung Cysts ◽  
History Of ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenicFLCNmutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer. Based on this clinical presentation, the patient was suspected for BHD syndrome, which was confirmed after molecular testing. We discuss the importance of recognizing this autosomal dominant cancer disorder when a patient is presented at the urologist with a positive family history of chromophobe renal cell cancer or a positive familial history for renal cell cancer and pneumothorax.

Lung Cysts

1937 ◽  
Vol 216 (21) ◽  
pp. 919-922 ◽  
Author(s):  
LOUIS RABINOWITZ ◽  
EDWARD J. ROGERS
Keyword(s):  
Lung Cysts

scholarly journals Experimental infections of muskoxen (Ovibos moschatus) and domestic sheep with Umingmakstrongylus pallikuukensis (Nematoda: Protostrongylidae): parasite development, population structure, and pathology

1999 ◽  
Vol 77 (10) ◽  
pp. 1562-1572 ◽  
Author(s):  
S J Kutz ◽  
E P Hoberg ◽  
L Polley
Keyword(s):  
Parasite Development ◽  
Domestic Sheep ◽  
Lung Pathology ◽  
Experimental Conditions ◽  
Ovibos Moschatus ◽  
Lung Cysts ◽  
Pulmonary Cysts ◽  
Third Stage ◽  
Larval Production ◽  
Umingmakstrongylus Pallikuukensis

Three captive muskoxen (Ovibos moschatus) were successfully infected with third-stage larvae of Umingmakstrongylus pallikuukensis digested or emerged from the slugs Deroceras reticulatum and D. laeve, for the first time completing the life cycle of this parasite under experimental conditions. The course of parasite development and patency was followed for 26 months post infection (p.i.) using fecal examinations and radiography. The prepatent periods in two of the muskoxen were 91 and 95 days and the patent period in one extended for 23 months. Larval production peaked 13-14 months p.i. On postmortem of two of the muskoxen at months 14 and 26 p.i., adult parasites were found only within pulmonary cysts and cysts were randomly distributed between left and right lungs. Cyst dimensions were positively correlated with the number of adult parasites they contained. On postmortem of the third muskox at day 97 p.i., not all adult parasites were within typical cysts; two were found free in interlobular septa. First-stage larvae were recovered from lung cysts of this animal but not from feces. Lung pathology in all three muskoxen appeared localized and associated with the adult nematodes. Infection of two sheep with third-stage larvae of U. pallikuukensis did not result in parasite establishment.

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