Dermatologic Manifestations of Tuberous Sclerosis Treatment & Management

Updated: Jul 05, 2019
  • Author: Rabindranath Nambi, MD; Chief Editor: Dirk M Elston, MD  more...
  • Print

Medical Care

A multidisciplinary team approach is useful to address the many organ systems that may be affected by tuberous sclerosis. Periodic monitoring is necessary, ranging from 1-3 years, depending on the internal tumors and their manifestations. Treatment plans should be determined on an individual basis.

Sirolimus and everolimus have now become approved treatments for this condition. In a 2016 study, sirolimus (Rapamycin) was used in a 1% formulation applied twice daily continuously. [19] The authors found good improvement when started at an earlier age. Irritation was the main adverse effect.

Recommendations for epilepsy include the following:

  • Review current antiepileptic medications.

  • For new and unexplained behavior problems, mood changes, sleep disturbance, or nonconvulsive status, perform urgent brain scanning (MRI preferred to CT scanning) if symptoms and signs suggest raised intracranial pressure or if focal neurological symptoms or signs are present; perform EEG if applicable.

  • Everolimus is an mTOR inhibitor that has been shown to reduce epileptic fits in over 55% of children treated. This has cytoreductive effects in subependymal giant cell astrocytoma and renal angiomyolipoma.

Solid renal lesions with a low fat content on ultrasound should be carefully investigated by an expert.

Recommendations for assessment of renal disease include the following:

  • Measure blood pressure annually.

  • Test renal function (eg, urea, electrolyte, and plasma creatinine levels) regularly in adults and children with polycystic kidney disease.

  • Perform renal ultrasonography and repeat annually if a lesion has been documented or if otherwise indicated.

  • Refer the patient to a specialist clinic if frank hematuria occurs or if treatment of the renal lesion is being contemplated.

  • mTOR inhibitors have changed the landscape of management, with the EXIST-2 study showing clear reduction in renal masses with everolimus 10 mg daily. [20] This appears to be well tolerated. There has been a rebound increase in a few patients upon cessation of the drug.

Investigate for pervasive developmental disorders at age 2 years (eg, Childhood Autism Test [CHAT]) and again at school entry (ie, age 4-5 y). Perform an Alzheimer's Disease Information Questionnaire (ADIQ) if developmental delay is suspected.

Screening for psychiatric and behavioral disturbances may require testing at school entry and again at age 7 years, at secondary school transition, and during mid adolescence (age 15 y). Refer the patient to a mental health specialist as required.

If developmental delay is suspected, assess the patient's intellectual and cognitive profile at key stages in order to identify problems early and act accordingly (age 2-3 y, age 7-8 y). Access the need to place children and adults with learning disabilities and neuropsychological impairments in the care of specialists; also assess the need to refer patients to a community learning disabilities team. [21]

Infantile spasms may be treated and relapses may be less with high dose vigabatrin. This can be given long term to prevent relapses. [22]


Surgical Care

The facial angiofibromas cause the most psychological distress for patients and benefit from laser treatment. The argon and pulsed-dye lasers are more effective on vascular lesions, while the carbon dioxide laser is effective in lesions with increased fibrous content. Either laser or diathermy can remove ungual fibromas.



Assess whether any of the following is needed:

  • Special education (with appropriate documentation)

  • Further vocational training or new work placement (refer to the local disablement resettlement officer if required)

  • Social care options (eg, supported or sheltered employment, daycare, supported leisure activities, supported/staffed sheltered housing, residential care)

Investigate family members, when indicated, including a family history, a clinical examination (including skin evaluation with UV light), funduscopy, brain CT scanning or MRI, and genetic counseling.


Long-Term Monitoring

Neurodevelopmental testing as age-appropriate screening for behavioral and neurodevelopmental dysfunction at the time of tuberous sclerosis diagnosis is essential. Reassess children with abnormal test results periodically. Repeat assessment around the time that a child enters school and then reassess periodically in response to educational and behavioral concerns.