Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role. [Review]
Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role. [Review]
- 2017
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.
English
0003-9888
*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]
MedStar Washington Hospital Center
MedStar Washington Hospital Center
Dermatology
Dermatology Marie Carver
Journal Article
Review
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.
English
0003-9888
*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]
MedStar Washington Hospital Center
MedStar Washington Hospital Center
Dermatology
Dermatology Marie Carver
Journal Article
Review