NORD gratefully acknowledges Francis J. DiMario Jr., MD, Department of Pediatrics, Neurogenetics-Tuberous Sclerosis Clinic, Connecticut
Children's Medical Center, for assistance in the preparation of this report.
Synonyms of Tuberous Sclerosis
- Bourneville Pringle Syndrome
- Phakomatosis TS
- Tuberose Sclerosis
- Tuberous Sclerosis Complex
Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder can cause a wide range of potential signs and symptoms and is associated with the formation of benign (non-cancerous) tumors in various organ systems of the body. The skin, brain, eyes, heart, kidneys and lungs are frequently affected. These tumors are often referred to as hamartomas. Hamartoma is a general term for a tumor or tumor-like growth that is made up of cells normally found in the area of the body where the hamartoma forms. Hamartomas are not malignant; they do not metastasize and spread to other areas of the body. However, these abnormal growths can grow larger and can damage the affected organ system. The number, size, and specific location of these abnormal growths in individuals with tuberous sclerosis can vary widely and consequently the severity of the disorder can vary widely as well. Tuberous sclerosis results from alterations (mutations) in a gene or genes that may occur spontaneously (sporadically) for unknown reasons or be inherited as an autosomal dominant trait. Most cases represent new (sporadic or de novo) gene mutations, with no family history of the disease. Mutations of at least two different genes are known to cause tuberous sclerosis, the TSC1 gene or the TSC2 gene.
NORD Member Organizations
1984, 1985, 1987, 1988, 1989, 1990, 1992, 1993, 1994, 1997, 1998, 1999, 2000, 2004, 2005, 2016
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