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.

Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review

“…Cutaneous manifestations of TSC are easily identified and are present in >90% of patients with TSC ( 25 ). Hypomelanotic macules may be present at birth, however they also may not appear until later in life ( 26 ).…”

Finding a cure for tuberous sclerosis complex: From genetics through to targeted drug therapies

“…Cutaneous manifestations occur in almost all patients with TSC and therefore form an integral part of the diagnostic criteria (Cardis & DeKlotz, 2017). Patients often have light colored spots on their skin called hypomelanotic macules (hyp that means less than normal, while melanotic refers to the skin pigmentation) as well as other cutaneous irregularities including angiofibromas, cephalic fibrous plaques, patches of thickened, raised skin called shagreen patches, and fibrous nail-bed growths called ungual fibromas.…”

Update on Genetic Conditions Affecting the Skin and the Kidneys

“…Everolimus (Votubia ® ) is approved as a system therapeutic for use in children of 3 years and older with subependymal giant cell astrocytomas and for adults with complicated renal angiomyolipomas ( 71 ). Cutaneous lesions can be treated surgically, using laser (CO 2 /Erbium:YAG/Dye laser combination, or CO 2 , or Nd:YAG, or pulsed-dye laser) ( 72 – 74 ) and pharmacologically using topical mTOR inhibitors ( 75 , 76 ). Surgical intervention can be considered as a therapeutic option for painful hemorrhagic renal angiomyolipomas and cerebral lesions.…”