Bourneville Pringle Syndrome

It is feasible that the primary title of the record Tuberous Sclerosis is not the name you expected. Kindly inspect the words detailing to locate the alternative name(s) and also condition neighborhood(s) covered by this report.


  • Bourneville Pringle Disorder
  • Epiloia
  • Phakomatosis TS
  • TSC1
  • TSC2
  • Tuberose Sclerosis
  • Tuberous Sclerosis Facility
  • Tuberous Sclerosis-1

Problem Neighborhoods

  • None

General Discussion
Tuberous sclerosis is a rare hereditary multisystem condition that is usually obvious soon after birth. The disorder may be characterized by episodes of uncontrolled electric task in the mind (seizures); mental retardation; distinctive skin abnormalities (sores); and also benign (noncancerous), tumor-like blemishes (hamartomas) of the mind, particular areas of the eyes (e.g., retinas), the heart, the kidneys, the lungs, or other tissues or organs. Additionally, many influenced individuals could have cyst-like areas within certain skeletal areas, especially bones of the fingers and also toes (phalanges). Characteristic skin lesions consist of dramatically defined areas of decreased skin coloration (hypopigmentation) that might develop during early stage and also relatively little reddish nodules that may appear on the cheeks as well as nose start at about age four. These reddish sores eventually expand, blend with each other (coalesce), and create a wart-like look (sebaceous adenomas). Added skin lesions could additionally establish, consisting of flat, “coffee-colored” locations of enhanced skin coloring (cafe-au-lait places); benign, coarse nodules (fibromas) arising around or underneath the nails; or rugged, raised, “bumpy” lesions (shagreen patches) on the lower back.

Tuberous sclerosis arises from changes (mutations) in a gene or genes that may occur spontaneously (sporadically) for unknown reasons or be acquired as an autosomal leading trait. A lot of cases represent brand-new (occasional) gene anomalies, without any family members past history of the illness. Anomalies of at least two different genetics are understood to create tuberous sclerosis. One gene (TSC1) has actually been mapped to the long arm (q) of chromosome 9 (9q34). A second gene for the illness (TSC2) is located on the short arm (p) of chromosome 16 (16p13.3). It stays vague whether some sporadic and domestic instances of the disease could be dued to mutations of other, presently unknown genes (genetic heterogeneity).

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