Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role. [Review]

MedStar author(s):
Citation: Archives of Disease in Childhood. 102(9):858-863, 2017 SepPMID: 28351834Institution: MedStar Washington Hospital Center | MedStar Washington Hospital CenterDepartment: Dermatology | Dermatology Marie CarverForm of publication: Journal ArticleMedline article type(s): Journal Article | ReviewSubject headings: *Pediatricians | *Physician's Role | *Skin Diseases/et [Etiology] | *Tuberous Sclerosis/co [Complications] | Antibiotics, Antineoplastic/tu [Therapeutic Use] | Humans | Practice Guidelines as Topic | Sirolimus/tu [Therapeutic Use] | Skin Diseases/di [Diagnosis] | Skin Diseases/th [Therapy] | Skin Neoplasms/di [Diagnosis] | Skin Neoplasms/et [Etiology] | Skin Neoplasms/th [Therapy] | TOR Serine-Threonine Kinases/ai [Antagonists & Inhibitors] | Tuberous Sclerosis/di [Diagnosis] | Tuberous Sclerosis/th [Therapy]Year: 2017Local holdings: Available online through MWHC library: 1926 - 2010ISSN:
  • 0003-9888
Name of journal: Archives of disease in childhoodAbstract: Copyright 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/.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.All authors: Cardis MA, DeKlotz CMFiscal year: FY2017Digital Object Identifier: Date added to catalog: 2017-05-06
Holdings
Item type Current library Collection Call number Status Date due Barcode
Journal Article MedStar Authors Catalog Article 28351834 Available 28351834

Available online through MWHC library: 1926 - 2010

Copyright 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/.

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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