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Chapter 127: Tuberous Sclerosis Complex

Antara Afrin; Joel Moss; Thomas N. Darling

TUBEROUS SCLEROSIS COMPLEX

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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Table 127-1 Tuberous Sclerosis Complex Treatment Table
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MEDICATION NAME INDICATIONa MECHANISM OF ACTION DOSING ADVERSE EFFECTS SUGGESTED MONITORING LEVEL OF EVIDENCE (REFERENCE)
Topical Therapy
Sirolimus/rapamycinb AF mTOR inhibitor 0.1%-1% gel, ointment or cream BID Irritation, dry skin, acne None IA2–7
FCP, HM IIB8,9
Systemic Therapy
Everolimus

AML, SEGA, and partial onset seizures

Not FDA-approved for treating skin lesions as sole indication

 mTOR inhibitor

Adult:

  • - AML: 10 mg QD

  • - SEGA: 4.5 mg/m2 QD

  • - Partial-onset seizures: 5 mg/m2 QD

Pediatric:

  • - AML: safety and effectiveness not established

  • - SEGA: same as adult for 1 y or older

  • - Partial-onset seizures: same as adult for 2 y or older

 Apthous ulcers, acne-like lesions, cough, decreased renal function, nasopharyngitis, headache, GI symptoms, fatigue, lipid, or hematologic abnormalities, infections, arthralgia, bronchospasm, hypersensitivity, angioedema, pneumonitis, amenorrhea, others Titrate blood levels to 5-15 ng/mL when treating SEGA and partial-onset seizures; periodic monitoring of CBC, fasting serum glucose, lipids, hepatic and renal function

IB10,11

for improvement of skin lesions
Sirolimus

LAM

Not FDA-approved for treating skin lesions as sole indication

 mTOR inhibitor

Adult: begin at 2 mg daily

Pediatric: safety and efficacy not established in patients <18

 Similar profile to oral everolimus Titrate blood levels to 5-15 ng/mL; similar monitoring to oral everolimus

IIB12,13

for improvement of skin lesions
Procedural Therapy
Pulsed dye laser (PDL) AF Selective photothermolysis (targets hemoglobin) 6.0-7.5 J/cm2, 5 mm beam, 450 μs Transcient purpura14 None IIB15
Nd:YAG laser (continuous) AF Selective photothermolysis (targets hemoglobin) 30-40 W, 500 μm bare fiber, focal spot varied, 0.5-1.0 cm fiber-to-tissue distance Edema, transient erythema, post-inflammatory hyper-pigmentation Postoperative follow upc IIB16
CO2 laser (continuous) AF Vaporizes tissue 5-60 W, 2 mm spot, defocused Transient erythema, pigmentary changes, hypertrophic scarring Postoperative follow upc IIB17
UF 10-15 W, 1 mm beam, 7-10 s, focused and defocused IV18,19
CO2 laser (pulsed) AF

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