2 citations
,
July 2022 in “Cureus” This case report describes a rare patient with Sjogren's syndrome who experienced recurrent pneumothorax, resolved through surgical intervention, highlighting pneumothorax as an unusual complication of the condition.
7 citations
,
September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
1 citations
,
March 2023 in “European Journal of Human Genetics” This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
99 citations
,
May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
December 2012 in “Expert review of dermatology” This review summarizes current knowledge about Birt–Hogg–Dubé syndrome, discussing recent findings on its pathogenesis and treatment, but reports no new clinical results; the authors emphasize understanding its cutaneous manifestations.
16 citations
,
March 2011 in “Ophthalmic genetics” This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
1 citations
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June 2019 in “Current developments in nutrition” This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
73 citations
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May 1976 in “JAMA” This case report associates severe zinc deficiency with long-term total parenteral nutrition, suggesting the need for trace element supplementation in such nutritional management.
October 2025 in “International journal of research and scientific innovation” This case report highlights the importance of considering lupus pneumonitis as a differential diagnosis for respiratory symptoms in systemic lupus erythematosus, especially in areas endemic to tuberculosis.
July 2022 in “International Journal of Health Sciences” This review discusses various long-term complications among COVID-19 survivors, reporting no new clinical results, and underlines the need for vigilant monitoring by healthcare providers.
December 2021 in “Black sea journal of health science” This case report describes a 31-year-old male who developed eosinophilic pleuropericardial effusion potentially linked to long-term valproic acid use, which resolved after adjusting his medication.
12 citations
,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
114 citations
,
December 1951 in “Archives of Dermatology” This article reviews the effectiveness of adrenal cortex compounds E and F in treating various connective tissue disorders and reports no new clinical findings.
108 citations
,
October 2009 in “Javma-journal of The American Veterinary Medical Association” Foals with Rhodococcus equi infection often have other health problems that lower their chances of survival.
108 citations
,
October 2004 in “Anesthesiology” This review discusses surgical factors that may increase the risk of developing complex regional pain syndrome and describes potential preventive techniques but presents no new clinical results.
84 citations
,
March 2010 in “Infectious Disease Clinics of North America” The document concludes that rapid identification, isolation, and strict infection control are crucial to manage SARS outbreaks.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
42 citations
,
November 2004 in “Paediatric Respiratory Reviews” This review discusses the clinical features of SARS in children, noting milder symptoms compared to adults, and emphasizes the importance of ongoing monitoring for long-term effects; it reports no new treatment findings.
36 citations
,
October 2016 in “Bone” This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.
16 citations
,
July 2021 in “Histopathology” This review discusses recent findings on molecular changes in cutaneous adnexal tumours and reports novel markers and pathways involved, highlighting the diverse oncogenic drivers and tumour suppressor alterations.
16 citations
,
July 2012 in “The New England Journal of Medicine” This case report describes a 27-year-old man hospitalized with fatigue, myalgias, weakness, profound weight loss, and abnormal liver function, leading to a diagnosis after chest imaging revealed pneumomediastinum.
10 citations
,
November 2024 in “Nature Reviews Cardiology” Skin conditions can signal heart issues, highlighting the need for integrated care.
6 citations
,
March 2021 in “Cytotechnology” This review examines recent findings on COVID-19 pneumonia treatment using mesenchymal stem cells and reports no new clinical results; the authors highlight MSCs' potential due to their immunomodulatory and tissue-regenerative properties.
3 citations
,
June 1983 in “Archives of Dermatology” This article discusses the effectiveness of adrenal cortex compounds E and F in treating connective tissue disorders like rheumatoid arthritis and lupus erythematosus, but it reports no new clinical results.