Birt-Hogg-Dubé syndrome is a genodermatosis of autosomal dominant inheritance characterized by mutations in the folliculin (FLCN) gene. There is an inappropriate inhibition/activation of a protein, the foliculin, which may cause tumor lesions in skin, renal and lung lesions; they could have more risk of developing pneumothorax compared to the normal population. A 38-year-old male patient with bronchial asthma who consulted for hemoptysis three weeks after recovery from COVID-19 infection. A chest tomography was requested, showing an air cyst in the left lower lobe. Physical examination shows evidence of thoracic skin lesions which a skin biopsy was performed on. The results were compatible with fibrofolliculoma. Differential diagnoses were proposed. A genetic disorder associated with skin lesions was suspected. A multi-genetic panel that includes BRCA1, BRCA2, TP53 and FLCN genes was requested, which reported the mutation of the FLCN gene in heterozygosis classified as pathognomonic of Birt-Hogg-Dubé syndrome. Patient is currently under clinical follow-up while genetic counseling was requested for relatives.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Genet Med
January 2025
Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (IBIMA -Plataforma Bionand), University of Málaga, Málaga, Spain; Lipid Unit. Internal Medicine Service. University Hospital Virgen de la Victoria, Málaga, Spain.
Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.
Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.
Living donor uterus transplant research project in Singapore: Progress of the first case.
Acta Obstet Gynecol Scand
January 2025
Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Introduction: To report the progress of the human living uterus transplant research project in Singapore.
Material And Methods: The uterus transplant research project began in 2012 with a collaboration between the Swedish and Singapore teams. Ethics approval was obtained from the SingHealth Centralised Institutional Review Board, the SingHealth Transplant and the Singapore General Hospital Biomedical Ethics Committee to perform 5 uterus transplant procedures in a collaborative multi-site research study at the Singapore General Hospital.
Distinctive salivary oral microbiome in patients with burning mouth syndrome depending on pain intensity compared to healthy subjects.
J Dent Sci
January 2025
Department of Oral Microbiology, School of Dentistry, Pusan National University, Yangsan, Republic of Korea.
Background/purpose: Burning moouth syndrome (BMS) is a chronic pain condition similar to neuropathic pain. It is characterized by a persistent burning sensation in the oral cavity. Despite the lack of clarity regarding the etiology of BMS, recent studies have reported an association between the gut microbiome and neuropathic pain.
View Article and Find Full Text PDFA review of the roles of exosomes in salivary gland diseases with an emphasis on primary Sjögren's syndrome.
J Dent Sci
January 2025
State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Salivary gland diseases encompass a broad range of conditions, including autoimmune, inflammatory, obstructive, and neoplastic disorders, significantly impacting oral health and overall well-being. Recent research has highlighted the crucial role of exosomes, small extracellular vesicles, in these diseases. Exosomes mediate intercellular communication by transferring bioactive molecules such as proteins, microRNAs, and lipids, positioning them as potential diagnostic biomarkers and therapeutic agents.
View Article and Find Full Text PDFStudy of dynamic brain function in irritable bowel syndrome via Hidden Markov Modeling.
Front Neurosci
January 2025
Department of Radiology, Affiliated Hospital of North Sichuan Medical College, Nanchong, China.
Background And Purpose: Irritable bowel syndrome (IBS) is a common bowel-brain interaction disorder whose pathogenesis is unclear. Many studies have investigated abnormal changes in brain function in IBS patients. In this study, we analyzed the dynamic changes in brain function in IBS patients using a Hidden Markov Model (HMM).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!