PT  - JOURNAL ARTICLE
AU  - Michael A Cardis
AU  - Cynthia Marie Carver DeKlotz
TI  - Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
AID  - 10.1136/archdischild-2016-312001
DP  - 2017 Sep 01
TA  - Archives of Disease in Childhood
PG  - 858--863
VI  - 102
IP  - 9
4099  - http://adc.bmj.com/content/102/9/858.short
4100  - http://adc.bmj.com/content/102/9/858.full
SO  - Arch Dis Child2017 Sep 01; 102
AB  - 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.