Tuberous sclerosis complex: Bourneville's disease
Keywords:
Tuberous sclerosus, Bourneville’s diseaseAbstract
Tuberous sclerosis complex is an autosomal dominant neurocutaneous syndrome due to mutations in two genes, tuberin and hamartin, involved in tissue growth. It is characterized by hamartomas in multiple organs including skin. Cutaneous lesions e.g. angiofibromas, ash-leaf macules, shagreen patches, ungual fibromas are quite characteristic and may herald other systemic features. The present article reviews the clinical profile, laboratory work-up, diagnosis and management of this multisystem disease.ÂReferences
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