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Boggarapu S, Roberds SL, Nakagawa JA, Beresford E. Characterization and management of facial angiofibroma related to tuberous sclerosis complex in the United States: retrospective analysis of the natural history database. Orphanet Journal of Rare Diseases. 2022;17:355. doi: 1186/s13023-022-02496-2

  • The authors conducted a retrospective study using data from the TSC Alliance Natural History Database to look at clinical features of TSC specifically in individuals that have facial angiofibromas (FA). The presence of TSC2 mutations and many other TSC-related manifestations were significantly higher in individuals that have FA. Additionally, about one-fourth of individuals in the database were using a topical mTOR inhibitor for FA while ~45% of individuals were not receiving treatment for their FA at the time of publication.

Ashley J. Pounders*, Gabrielle V. Rushing*, Sonal Mahida, Bareng Aletta Sanny Nonyane, Emily A. Thomas, and Rabiah Sundus Tameez. Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and care (2022) Ther Adv Rare Dis 3: 1–16. https://doi.org/10.1177/26330040221140125 *Designates co-first authorship.

  • This publication highlights differences in skin manifestations between races in individuals with TSC and the potential effects of these differences on diagnosis and care. Findings included that Black individuals are less likely to be diagnosed at ⩽1 year of age as compared with White individuals within the NHD. Additionally, the authors found a difference in NHD participation with only 150 Black individuals participating, representing 6% of total NHD participants. Data further indicate a difference between Black and White individuals both in a TSC Center of Excellence and the NHD wherein Black individuals are less likely to receive genetic testing, utilize topical mTOR therapy, and participate in TSC clinical trials.