eMedicine Specialties > Dermatology > Pediatric Diseases

Tuberous Sclerosis: Treatment & Medication

Author: Rabindranath Nambi, MD, DD, DipNB, Consulting Staff, Department of Dermatology, Dudley Group of Hospitals, UK
Contributor Information and Disclosures

Updated: Aug 13, 2009

Treatment

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 has shown promise in regression of both subependymal giant cell astrocytomas and renal angiomyolipomas.17

  • 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.
  • 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.
  • 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.18

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.

Consultations

  • 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.

More on Tuberous Sclerosis

Overview: Tuberous Sclerosis
Differential Diagnoses & Workup: Tuberous Sclerosis
Treatment & Medication: Tuberous Sclerosis
Follow-up: Tuberous Sclerosis
References
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References

  1. Povey S, Burley MW, Attwood J, et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet. May 1994;58:107-27. [Medline].

  2. Astrinidis A, Senapedis W, Henske EP. Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner. Hum Mol Genet. Jan 15 2006;15(2):287-97. [Medline].

  3. Ellisen LW. Growth control under stress: mTOR regulation through the REDD1-TSC pathway. Cell Cycle. Nov 2005;4(11):1500-02. [Medline].

  4. Karbowniczek M, Henske EP. The role of tuberin in cellular differentiation: are B-Raf and MAPK involved?. Ann N Y Acad Sci. Nov 2005;1059:168-73. [Medline].

  5. van Slegtenhorst M, Nellist M, Nagelkerken B, et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet. Jun 1998;7(6):1053-7. [Medline].

  6. Wand O, Blum S, Shachar E, et al. Tuberous sclerosis in a military pilot. Aviat Space Environ Med. Jul 2009;80(7):657-9. [Medline].

  7. Roach ES, DiMario FJ, Kandt RS, Northrup H. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. Jun 1999;14(6):401-7. [Medline].

  8. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. Dec 1998;13(12):624-8. [Medline].

  9. Prabhu S, Mahesh KP. Tuberous sclerosis with oral angiofibroma: Case report. Br J Oral Maxillofac Surg. Jul 27 2009;[Medline].

  10. Cross JH. Neurocutaneous syndromes and epilepsy-issues in diagnosis and management. Epilepsia. 2005;46 Suppl 10:17-23. [Medline].

  11. Quigg M, Miller JQ. Clinical findings of the phakomatoses: tuberous sclerosis. Neurology. Nov 22 2005;65(10):E22-3. [Medline].

  12. Williams JM, Racadio JM, Johnson ND, Donnelly LF, Bissler JJ. Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex. Am J Kidney Dis. Jan 2006;47(1):95-102. [Medline].

  13. [Guideline] Mackay MT, Weiss SK, Adams-Webber T, et al. Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Neurology. May 25 2004;62(10):1668-81. [Medline].

  14. [Guideline] Engel J Jr, Wiebe S, French J, et al. Practice parameter: temporal lobe and localized neocortical resections for epilepsy. Epilepsia. Jun 2003;44(6):741-51. [Medline].

  15. [Guideline] Engel J Jr, Wiebe S, French J, et al. Practice parameter: temporal lobe and localized neocortical resections for epilepsy: report of the Quality Standards Subcommittee of the American Academy of Neurology, in association with the American Epilepsy Society and the American Association of Neurological Surgeons. Neurology. Feb 25 2003;60(4):538-47. [Medline].

  16. Altman NR, Purser RK, Post MJ. Tuberous sclerosis: characteristics at CT and MR imaging. Radiology. May 1988;167(2):527-32. [Medline].

  17. Jozwiak J, Jozwiak S, Oldak M. Molecular activity of sirolimus and its possible application in tuberous sclerosis treatment. Med Res Rev. Mar 2006;26(2):160-80. [Medline].

  18. Tuberous Sclerosis Association. Clinical guidelines for the care of patients with Tuberous Sclerosis Complex. Available at: http://www.tuberous-sclerosis.org. England: Birmingham; April, 2002.

  19. Flinter FA, Neville BG. Examining the parents of children with tuberous sclerosis. Lancet. Nov 15 1986;2(8516):1167. [Medline].

  20. Franz DN. Diagnosis and management of tuberous sclerosis complex. Semin Pediatr Neurol. Dec 1998;5(4):253-68. [Medline].

  21. Greenwald MJ, Paller AS. Ocular and dermatologic manifestation of neurocutaneous syndromes. Dermatol Clin. Jul 1992;10(3):623-39. [Medline].

  22. Kwiatkowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol. Mar 1994;130(3):348-54. [Medline].

  23. Roach ES, Delgado MR. Tuberous sclerosis. Dermatol Clin. Jan 1995;13(1):151-61. [Medline].

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Further Reading

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Keywords

tuberous sclerosis, epiloia, Bourneville disease, tuberous sclerosis complex, TSC

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Contributor Information and Disclosures

Author

Rabindranath Nambi, MD, DD, DipNB, Consulting Staff, Department of Dermatology, Dudley Group of Hospitals, UK
Disclosure: Nothing to disclose.

Medical Editor

Eleanor E Sahn, MD, Director, Division of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Medical University of South Carolina
Eleanor E Sahn, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Southern Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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