Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role

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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.

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Cardis, M. A., & Deklotz, C. M. C. (2017, September 1). Cutaneous manifestations of tuberous sclerosis complex and the paediatrician’s role. Archives of Disease in Childhood. BMJ Publishing Group. https://doi.org/10.1136/archdischild-2016-312001

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