Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis

Kacerovska, Denisa; Kerl, Katrin; Michal, Michal; Filipova, Hana; Vrtel, Radek; Vanecek, Tomas; Zelenakova, Hana; Kraus, Jaroslav; Kodet, Roman; Kazakov, Dmitry V

doi:10.1016/j.jaad.2012.03.021

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Kacerovska, D., Kerl, K., Michal, M., Filipova, H., Vrtel, R., Vanecek, T., Zelenakova, H., Kraus, J., Kodet, R., & Kazakov, D. V. (2012). Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis. Journal of the American Academy of Dermatology, 67(6), 1319–1326. https://doi.org/10.1016/j.jaad.2012.03.021

Abstract

BACKGROUND: Giant angiofibromas in patients with tuberous sclerosis complex (TSC) are rare. OBJECTIVE: We sought to report two patients who had TSC with unusually large and disfiguring facial angiofibromas and to identify underlying histopathologic changes that may possibly explain the clinical features. METHODS: We performed a clinicopathologic, immunohistochemical, and molecular biologic study using 42 lesional specimens and peripheral blood from one of the two patients. The immunohistochemical investigations were mainly focused on