Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

Abstract

Facial angiofibromas (FAs) are common cutaneous manifestations of tuberous sclerosis complex (TSC), typically occurring as bilateral and symmetric facial papules. To date, unilateral FAs have been reported in 16 cases.^1,2 Most authors have hypothesised that unilateral FAs are a segmental form of TSC mosaicism but this hypothesis has not been proven. We herein describe a patient with isolated unilateral FAs reflecting a type 1 segmental postzygotic mosaicism of TSC with a c.4949_4982del TSC2 mutation.

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