Angiofibromas



Angiofibromas


Christopher G. Bunick

Amanda Zubek

Macrene Alexiades



BACKGROUND

Angiofibromas are benign papules that typically present on the face of children or adults. When multiple, they may be associated with an underlying medical or genetic condition. Angiofibromas are extremely common in the general population. When they are solitary or few on the nose they are also referred to as benign fibrous papule of the nose. When present on the corona of the glans penis, they are referred to as pearly penile papules.


PRESENTATION

Patients present with a complaint of bumps or red to flesh-colored growths typically on the face. They are slow growing and may remain stable in size for many years.




PATHOGENESIS

Studies of both solitary and multiple angiofibromas indicate that the mTOR signaling pathway plays a pathogenic role in the formation of the cutaneous lesions. In the case of tuberous sclerosis, TSC1 (hamartin) and TSC2 (tuberin) act as tumor suppressors of mTOR; but when TSC1 or TSC2 are mutated, mTOR activity is no longer checked and a progrowth environment ensues, leading to hamartomatous tumors. Recent analysis of solitary angiofibromas demonstrated high levels of phosphorylated mTOR expression in dermal stromal cells and epidermal keratinocytes, similar to that from TSC-associated angiofibromas.4

Jun 29, 2020 | Posted by in Dermatology | Comments Off on Angiofibromas
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