research Birt–Hogg–Dubé Syndrome: A Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
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research Increased Cathepsin B Expression in Cultured Tuberous Sclerosis Skin Tumor Cells and Patient Tumor Tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research Human TSC2-Null Fibroblast-Like Cells Induce Hair Follicle Neogenesis and Hamartoma Morphogenesis
Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
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.
research Differentiating Pulmonary Lymphangioleiomyomatosis From Pulmonary Langerhans Cell Histiocytosis And Birt-Hogg-Dube Syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
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