TY  - BOOK
AU  - Cardis, Michael A
AU  - DeKlotz, Cynthia
TI  - Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role. [Review]
SN  - 0003-9888
PY  - 2017///
KW  - *Pediatricians
KW  - *Physician's Role
KW  - *Skin Diseases/et [Etiology]
KW  - *Tuberous Sclerosis/co [Complications]
KW  - Antibiotics, Antineoplastic/tu [Therapeutic Use]
KW  - Humans
KW  - Practice Guidelines as Topic
KW  - Sirolimus/tu [Therapeutic Use]
KW  - Skin Diseases/di [Diagnosis]
KW  - Skin Diseases/th [Therapy]
KW  - Skin Neoplasms/di [Diagnosis]
KW  - Skin Neoplasms/et [Etiology]
KW  - Skin Neoplasms/th [Therapy]
KW  - TOR Serine-Threonine Kinases/ai [Antagonists & Inhibitors]
KW  - Tuberous Sclerosis/di [Diagnosis]
KW  - Tuberous Sclerosis/th [Therapy]
KW  - MedStar Washington Hospital Center
KW  - Dermatology
KW  - Dermatology Marie Carver
KW  - Journal Article
KW  - Review
N1  - Available online through MWHC library: 1926 - 2010
N2  - 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
UR  - https://dx.doi.org/10.1136/archdischild-2016-312001
ER  -