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December 1995

Tuberous SclerosisThe Persistent Challenge of Clinical Diagnosis

Author Affiliations

Divisions of General Pediatrics and Human Genetics and Molecular Biology Children's Hospital of Philadelphia Room 106, Abramason Bldg 34th Street and Civic Center Boulevard Philadelphia, PA 19104

Dr Schnur is also affiliated with the Departments of Pediatrics and Genetics, University of Pennsylvania School of Medicine, Philadelphia.

Arch Dermatol. 1995;131(12):1460-1462. doi:10.1001/archderm.1995.01690240126024

THE TUBEROUS sclerosis complex (TSC) is a dominantly inherited, multisystemic, and frequently very debilitating disease. Prevalence estimates range from 1 per 5800 to 1 per 15 000,1,2 making this one of the most common genetic diseases. Expression is highly variable even within the same family, and the rate of de novo mutation is high. Tuberous sclerosis complex may affect the central nervous system (eg, causing seizures, mental retardation, cortical tubers, subependymal nodules, and giant cell astrocytomas), skin and its appendages (eg, hypomelanotic macules, angiofibromas, connective tissue nevi, forehead plaques, ungual fibromas, poliosis, gum fibromas, and dental pits), eyes (eg, retinal hamartomas and pigmentary defects), kidneys (angiomyolipomas, cysts, and renal cell carcinoma), heart (eg, rhabdomyomas), lung (eg, lymphangiomatosis), blood vessels (eg, aortic aneurysms), and bones (eg, sclerosis and cysts).3 However, the classic clinical triad of Vogt4 of seizures, mental retardation, and angiofibromas is present only in a minority

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