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Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role

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, emotiona...

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Detalles Bibliográficos
Autores principales: Cardis, Michael A, DeKlotz, Cynthia Marie Carver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574405/
https://www.ncbi.nlm.nih.gov/pubmed/28351834
http://dx.doi.org/10.1136/archdischild-2016-312001
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author Cardis, Michael A
DeKlotz, Cynthia Marie Carver
author_facet Cardis, Michael A
DeKlotz, Cynthia Marie Carver
author_sort Cardis, Michael A
collection PubMed
description 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.
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spelling pubmed-55744052017-09-06 Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role Cardis, Michael A DeKlotz, Cynthia Marie Carver Arch Dis Child Review 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. BMJ Publishing Group 2017-09 2017-03-28 /pmc/articles/PMC5574405/ /pubmed/28351834 http://dx.doi.org/10.1136/archdischild-2016-312001 Text en Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ 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/
spellingShingle Review
Cardis, Michael A
DeKlotz, Cynthia Marie Carver
Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
title Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
title_full Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
title_fullStr Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
title_full_unstemmed Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
title_short Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
title_sort cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574405/
https://www.ncbi.nlm.nih.gov/pubmed/28351834
http://dx.doi.org/10.1136/archdischild-2016-312001
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