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Therapeutic Approach

Tuberous sclerosis complex (TSC) is a syndrome caused by pathogenic variants in either TSC1 or TSC2 tumor suppressor gene, leading to the development of tumors in multiple organs. Skin lesions in TSC include hamartomatous tumors (eg, facial angiofibromas, ungual fibromas, shagreen patches) and pigmentary changes (eg, hypomelanotic macules, “confetti” skin lesions). Therapy should be based on severity of skin manifestations and patient goals, taking into account potential systemic therapy using an mTOR inhibitor for internal disease. In general, medical treatments are required long term to maintain benefit. Surgical approaches may be followed by recurrences or new lesions, possibly requiring a combination of techniques. It appears that earlier initiation of treatment for skin hamartomas may result in better outcomes. Good sun protection should be advised for all patients.1 See Table 127-1.

Table 127-1Tuberous Sclerosis Complex Treatment Table

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