The diverse clinical manifestations of tuberous sclerosis complex: a review.
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous disorder. TSC results in hamartomatous lesions primarily involving the skin, central nervous system, kidneys, eyes, heart, and lungs. The clinical findings and severity of TSC are highly variable. Recent advances in our understanding of the complexities of the TSC1 and TSC2 genes are making genotype-phenotype correlations possible. While managing seizures, cognitive dysfunction, and behavioral abnormalities are the primary responsibility of the neurologist, familiarity with all aspects of this disease helps provide better comprehensive care for affected individuals.
Rosser
Tena
T
Department of Neurology, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, CA 90027, USA. trosser@chla.usc.edu
Panigrahy
Ashok
A
McClintock
William
W
D002490:Central Nervous System / Q000473:pathology; D005128:Eye Diseases / Q000209:etiology / Q000473:pathology; D006338:Heart Neoplasms / Q000209:etiology / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000503:physiopathology; D008171:Lung Diseases / Q000209:etiology / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D009422:Nervous System Diseases / Q000209:etiology; D012207:Rhabdomyoma / Q000209:etiology / Q000473:pathology; D012867:Skin / Q000473:pathology; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism
C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins