33 citations,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
7 citations,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
4 citations,
January 2019 in “Journal of cutaneous pathology” The mTOR pathway may be involved in the development of hair follicle tumors, with higher activity in malignant tumors.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
16 citations,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
16 citations,
March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
3 citations,
March 2005 in “Journal of the American Academy of Dermatology” The lotion and shampoo effectively treated scalp seborrheic dermatitis.
72 citations,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
7 citations,
March 2017 in “Journal of dermatology” The conclusion is that accurately identifying folliculosebaceous tumors requires understanding their clinical signs and microscopic features.
March 2017 in “InTech eBooks” Acne vulgaris is a common skin condition that can cause low self-esteem and depression, and early treatment is important to prevent scarring.
47 citations,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
99 citations,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
29 citations,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
4 citations,
January 2014 in “The Journal of urology/The journal of urology” Kidney cancer cells without folliculin are more sensitive to radiation due to increased self-eating cell death.
January 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
344 citations,
May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
1 citations,
January 2021 in “Figshare” The conclusion is that surgical removal of solitary fibrofolliculoma is effective with no relapses, and diagnosis requires a biopsy due to varied symptoms.
October 2023 in “Research Review” Some skin tumors from hair follicles and glands can be linked to genetic syndromes and may be benign or malignant.
19 citations,
September 2016 in “Journal of the European Academy of Dermatology and Venereology” Trichofolliculoma is a unique benign tumor mainly affecting middle-aged adults' faces, often misdiagnosed without histopathology.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
66 citations,
May 2012 in “Scientific Reports” Scientists successfully created and transplanted bioengineered hair follicles that function like natural ones, suggesting a new treatment for hair loss.
36 citations,
March 2011 in “Nature Communications” Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
28 citations,
October 2013 in “Cornea” Scientists have made progress in creating replacement teeth, hair, and glands that work, which could lead to new treatments for missing teeth, baldness, and dryness conditions.
16 citations,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Acne
2 citations,
May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
September 2023 in “Frontiers in medicine” The mTOR signaling pathway is crucial for hair health and targeting it may lead to new hair loss treatments.
11 citations,
May 2022 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Most cutaneous adnexal tumors examined were benign and resembled common skin tumors.