Literature DB >> 15748587

Tuberous sclerosis complex (Bourneville disease).

Christopher T Cassetty1.   

Abstract

A 26-year-old woman with tuberous sclerosis complex had numerous cutaneous manifestations and systemic manifestations that included subependymal nodules, pulmonary lymphangioleiomyomatosis, renal cysts, and bilateral renal angiomyolipomas. Tuberous sclerosis is a hamartomatous disease with defects in either hamartin (TSC1) or tuberin (TSC2) that can be of autosomal dominant inheritance or spontaneous mutation.

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Year:  2004        PMID: 15748587

Source DB:  PubMed          Journal:  Dermatol Online J        ISSN: 1087-2108


  1 in total

1.  Particular cutaneous lesions and chronic renal failure.

Authors:  Alain Meyrier
Journal:  NDT Plus       Date:  2008-08-11
  1 in total

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