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Arkhiv Patologii 2021Birt-Hogg-Dubé syndrome is a rare autosomal dominant disease caused by a mutation in the gene and presents with a triad of multiple fibrofolliculomas, trichodiscomas,... (Review)
Review
Birt-Hogg-Dubé syndrome is a rare autosomal dominant disease caused by a mutation in the gene and presents with a triad of multiple fibrofolliculomas, trichodiscomas, and masses that clinically resemble fibroepithelial polyps (acrochordones), accompanied by an increased risk of kidney tumors and lung cysts. The paper provides a literature review supplemented by clinical cases and the morphological pattern of skin lesions. It presents the clinical and morphological features of cutaneous manifestations of the syndrome and gives diagnostic criteria.
Topics: Birt-Hogg-Dube Syndrome; Humans; Kidney Neoplasms; Proto-Oncogene Proteins; Skin Neoplasms; Tumor Suppressor Proteins
PubMed: 34041896
DOI: 10.17116/patol20218303145 -
Chest Oct 2016Cysts are commonly seen on CT scans of the lungs, and diagnosis can be challenging. Clinical and radiographic features combined with a multidisciplinary approach may... (Review)
Review
Cysts are commonly seen on CT scans of the lungs, and diagnosis can be challenging. Clinical and radiographic features combined with a multidisciplinary approach may help differentiate among various disease entities, allowing correct diagnosis. It is important to distinguish cysts from cavities because they each have distinct etiologies and associated clinical disorders. Conditions such as emphysema, and cystic bronchiectasis may also mimic cystic disease. A simplified classification of cysts is proposed. Cysts can occur in greater profusion in the subpleural areas, when they typically represent paraseptal emphysema, bullae, or honeycombing. Cysts that are present in the lung parenchyma but away from subpleural areas may be present without any other abnormalities on high-resolution CT scans. These are further categorized into solitary or multifocal/diffuse cysts. Solitary cysts may be incidentally discovered and may be an age related phenomenon or may be a remnant of prior trauma or infection. Multifocal/diffuse cysts can occur with lymphoid interstitial pneumonia, Birt-Hogg-Dubé syndrome, tracheobronchial papillomatosis, or primary and metastatic cancers. Multifocal/diffuse cysts may be associated with nodules (lymphoid interstitial pneumonia, light-chain deposition disease, amyloidosis, and Langerhans cell histiocytosis) or with ground-glass opacities (Pneumocystis jirovecii pneumonia and desquamative interstitial pneumonia). Using the results of the high-resolution CT scans as a starting point, and incorporating the patient's clinical history, physical examination, and laboratory findings, is likely to narrow the differential diagnosis of cystic lesions considerably.
Topics: Algorithms; Amyloidosis; Biopsy; Birt-Hogg-Dube Syndrome; Bronchial Neoplasms; Bronchiectasis; Cysts; Diagnosis, Differential; Histiocytosis, Langerhans-Cell; Humans; Lung; Lung Diseases; Lung Diseases, Interstitial; Lung Neoplasms; Papilloma; Pneumonia, Pneumocystis; Pulmonary Emphysema; Tomography, X-Ray Computed; Tracheal Neoplasms
PubMed: 27180915
DOI: 10.1016/j.chest.2016.04.026 -
American Journal of Respiratory and... Jun 2019A genetic influence on spontaneous pneumothoraces-those occurring without a traumatic or iatrogenic cause-is supported by several lines of evidence: ) pneumothorax can... (Review)
Review
A genetic influence on spontaneous pneumothoraces-those occurring without a traumatic or iatrogenic cause-is supported by several lines of evidence: ) pneumothorax can cluster in families (i.e., familial spontaneous pneumothorax), ) mutations in the gene have been found in both familial and sporadic cases, and ) pneumothorax is a known complication of several genetic syndromes. Herein, we review known genetic contributions to both sporadic and familial pneumothorax. We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dubé syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis complex/lymphangioleiomyomatosis, Loeys-Dietz syndrome, cystic fibrosis, homocystinuria, and cutis laxa, among others. At times, pneumothorax is their herald manifestation. These syndromes have serious potential extrapulmonary complications (e.g., malignant renal tumors in Birt-Hogg-Dubé syndrome), and surveillance and/or treatment is available for most disorders; thus, establishing a diagnosis is critical. To facilitate this, we provide an algorithm to guide the clinician in discerning which cases of spontaneous pneumothorax may have a genetic or familial contribution, which cases warrant genetic testing, and which cases should prompt an evaluation by a geneticist.
Topics: Birt-Hogg-Dube Syndrome; Genetic Predisposition to Disease; Genetic Testing; Humans; Mutation; Pedigree; Pneumothorax; Proto-Oncogene Proteins; Tumor Suppressor Proteins
PubMed: 30681372
DOI: 10.1164/rccm.201807-1212CI -
Korean Journal of Radiology Sep 2019Lung cysts are commonly seen on computed tomography (CT), and cystic lung diseases show a wide disease spectrum. Thus, correct diagnosis of cystic lung diseases is a... (Review)
Review
Lung cysts are commonly seen on computed tomography (CT), and cystic lung diseases show a wide disease spectrum. Thus, correct diagnosis of cystic lung diseases is a challenge for radiologists. As the first diagnostic step, cysts should be distinguished from cavities, bullae, pneumatocele, emphysema, honeycombing, and cystic bronchiectasis. Second, cysts can be categorized as single/localized versus multiple/diffuse. Solitary/localized cysts include incidental cysts and congenital cystic diseases. Multiple/diffuse cysts can be further categorized according to the presence or absence of associated radiologic findings. Multiple/diffuse cysts without associated findings include lymphangioleiomyomatosis and Birt-Hogg-Dubé syndrome. Multiple/diffuse cysts may be associated with ground-glass opacity or small nodules. Multiple/diffuse cysts with nodules include Langerhans cell histiocytosis, cystic metastasis, and amyloidosis. Multiple/diffuse cysts with ground-glass opacity include pneumocystis pneumonia, desquamative interstitial pneumonia, and lymphocytic interstitial pneumonia. This stepwise radiologic diagnostic approach can be helpful in reaching a correct diagnosis for various cystic lung diseases.
Topics: Amyloidosis; Birt-Hogg-Dube Syndrome; Cysts; Diagnosis, Differential; Histiocytosis, Langerhans-Cell; Humans; Lung Diseases; Lymphangioleiomyomatosis; Pneumonia, Pneumocystis; Tomography, X-Ray Computed
PubMed: 31464115
DOI: 10.3348/kjr.2019.0057 -
ANZ Journal of Surgery Apr 2019Primary spontaneous pneumothorax is a common problem faced by doctors in medical practice. It is a significant global health problem affecting adolescent and young... (Comparative Study)
Comparative Study Review
Primary spontaneous pneumothorax is a common problem faced by doctors in medical practice. It is a significant global health problem affecting adolescent and young adults. This article will review the etiopathology, diagnosis and current management guidelines. It aims to improve clinical practice and compliance to the complexities of procedures involved in management.
Topics: Adolescent; Birt-Hogg-Dube Syndrome; Chest Tubes; Endometriosis; Female; Guideline Adherence; Homocystinuria; Humans; Incidence; Male; Marfan Syndrome; Paracentesis; Pleurodesis; Pneumothorax; Practice Patterns, Physicians'; Randomized Controlled Trials as Topic; Recurrence; Risk Factors; Smoking; Thoracic Diseases; Thoracic Surgery, Video-Assisted; Thoracoscopy; Young Adult
PubMed: 29974615
DOI: 10.1111/ans.14713 -
JAAD Case Reports Apr 2023
PubMed: 36941874
DOI: 10.1016/j.jdcr.2023.02.002 -
Der Hautarzt; Zeitschrift Fur... Sep 2001Fibrofolliculoma is a rare tumor of the perifollicular mesenchyma. A 44-year old man noticed a growing number of small whitish firm papules on his neck and the upper...
Fibrofolliculoma is a rare tumor of the perifollicular mesenchyma. A 44-year old man noticed a growing number of small whitish firm papules on his neck and the upper thorax over the past two years. Histological examination demonstrated on multiple biopsies typical features of fibrofolliculoma. Further evaluation of the patient has not revealed any sign of neoplasia. The variable clinical manifestations of fibrofolliculomas are discussed.
Topics: Adult; Biopsy; Diagnosis, Differential; Head and Neck Neoplasms; Humans; Male; Nail Diseases; Nails; Neoplasms, Fibroepithelial; Skin; Skin Neoplasms
PubMed: 11572077
DOI: 10.1007/s001050170075 -
Cutis Nov 2019
Topics: Birt-Hogg-Dube Syndrome; Diagnosis, Differential; Facial Dermatoses; Humans; Male; Middle Aged
PubMed: 31886795
DOI: No ID Found -
Chest Oct 2020
Topics: Birt-Hogg-Dube Syndrome; Humans; Pneumothorax; Risk Factors
PubMed: 33036104
DOI: 10.1016/j.chest.2020.05.522