Abstract
Tuberous sclerosis complex (TSC) is an inherited disorder characterized by hamartomas in different body organs, mainly in the brain, skin, kidney, liver, lung, and heart. The clinical manifestations of TSC are the result of a mutation of one of two tumor suppressor genes, TSC1 and TSC2. Cutaneous findings in TSC should be regarded as cutaneous signs of a pivotal systemic disease. The authors elucidate the variety of neoplasms seen in TSC patients, along with their clinical significance, and suggest suitable evaluation and management strategies.
© 2011 The International Society of Dermatology.
MeSH terms
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Angiomyolipoma / diagnostic imaging
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Angiomyolipoma / drug therapy
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Angiomyolipoma / genetics
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Antineoplastic Agents / therapeutic use
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Brain Neoplasms / diagnostic imaging
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Brain Neoplasms / drug therapy
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Brain Neoplasms / genetics
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Carcinoma, Renal Cell / diagnostic imaging
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Carcinoma, Renal Cell / drug therapy
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Carcinoma, Renal Cell / genetics
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Cell Transformation, Neoplastic / drug effects
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Cell Transformation, Neoplastic / genetics*
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Female
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Heart Neoplasms / drug therapy
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Heart Neoplasms / genetics
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Humans
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Kidney Neoplasms / diagnostic imaging
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Kidney Neoplasms / drug therapy
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Kidney Neoplasms / genetics
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Lung Neoplasms / drug therapy
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Lung Neoplasms / genetics
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Lymphangioleiomyomatosis / drug therapy
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Lymphangioleiomyomatosis / genetics
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Male
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Mutation
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Radiography
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Rhabdomyoma / drug therapy
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Rhabdomyoma / genetics
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Sirolimus / therapeutic use
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Tuberous Sclerosis / diagnostic imaging
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Tuberous Sclerosis / genetics*
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Tuberous Sclerosis / pathology*
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Tuberous Sclerosis Complex 1 Protein
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins / genetics
Substances
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Antineoplastic Agents
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TSC1 protein, human
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TSC2 protein, human
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Tuberous Sclerosis Complex 1 Protein
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins
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Sirolimus