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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2017
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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. |
format | Online Article Text |
id | pubmed-5574405 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
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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