12 citations
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February 2014 in “PLoS ONE” This study observed high expression of mTOR pathway effectors in fibrous papules and TSC-associated angiofibromas, suggesting that topical rapamycin might be an effective treatment for fibrous papules.
12 citations
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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.
February 2009 in “Journal of The American Academy of Dermatology” Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
In this study, researchers found that the health state utility of moderate facial angiofibroma in Tuberous Sclerosis Complex patients is significantly lower compared to almost-clear facial angiofibroma, indicating that treatment for the condition can substantially improve quality of life.
This study suggests that skin tumor cells in tuberous sclerosis complex may promote hamartoma morphogenesis by expressing and releasing higher levels of cathepsin B.