24 citations
,
March 2016 in “Journal of Investigative Dermatology” This study suggests that TIP39 and its receptor PTH2R, identified in human epidermis, may play a role in keratinocyte function and influence skin differentiation.
12 citations
,
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
,
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.
1 citations
,
February 2023 in “International Journal of Rheumatic Diseases” This study reported that tuberculosis can mimic lupus-like symptoms, including the production of autoantibodies, which may confuse the diagnosis with systemic lupus erythematosus flares.
July 2026 in “Quality of Life Research” In this study, the health state utility for moderate facial angiofibroma was significantly lower than for almost-clear facial angiofibroma, indicating that reducing severity could improve quality of life for patients with Tuberous Sclerosis Complex.