title: Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role.
abstract: 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.
authors.affiliation: MedStar Washington Hospital Center/MedStar Georgetown University Hospital, Washington, DC, USA.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Cardis
authors.affiliation: MedStar Washington Hospital Center/MedStar Georgetown University Hospital, Washington, DC, USA.
authors.forename: Cynthia Marie Carver
authors.initials: CMC
authors.lastname: DeKlotz
mesh_terms: D000903:Antibiotics, Antineoplastic / Q000627:therapeutic use; D006801:Humans; D000072143:Pediatricians; D010819:Physician's Role; D017410:Practice Guidelines as Topic; D020123:Sirolimus / Q000627:therapeutic use; D012871:Skin Diseases / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D012878:Skin Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors; D014402:Tuberous Sclerosis / Q000150:complications* / Q000175:diagnosis / Q000628:therapy
chemical_list: D000903:Antibiotics, Antineoplastic; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus
keywords: mammalian target of rapamycin; paediatrics; skin manifestations; tuberous sclerosis complex