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 Tuberous Sclerosis: Clinical Findings in 57 Patients
Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
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 Poliosis Circumscripta: Overview And Underlying Causes
Poliosis circumscripta is a patch of white hair caused by lack of melanin, linked to genetic and acquired conditions.
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.
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