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Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
  1. Michael A Cardis,
  2. Cynthia Marie Carver DeKlotz
  1. MedStar Washington Hospital Center/MedStar Georgetown University Hospital, Washington, DC, USA
  1. Correspondence to Dr Cynthia Marie Carver DeKlotz, 5530 Wisconsin Avenue, Suite 730, Chevy Chase, MD 20815, USA; Cynthia.M.DeKlotz{at}medstar.net

Abstract

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediatricians can be a catalyst for facilitating early implementation of treatment strategies and establishing appropriate follow-up care. The range of potential treatment options for symptomatic or disfiguring TSC-associated skin lesions includes non-pharmacological (surgical excision, laser therapy) and pharmacological (eg, topical or systemic mTOR inhibitors) alternatives. In this review, we discuss the relevance of TSC-associated skin findings, highlight available treatment options, review guideline recommendations and emphasise the role of the primary care physician in the management of this complex disease.

  • mammalian target of rapamycin
  • paediatrics
  • skin manifestations
  • tuberous sclerosis complex

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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Footnotes

  • Funding Editorial assistance was funded by Novartis Pharmaceuticals Corporation.

  • Competing interests None.

  • Patient consent Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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