Please use this identifier to cite or link to this item:
Title: Tuberous sclerosis: literature review and case report
Author: Pascual Cruz, Montserrat
López López, José, 1958-
Chimenos Küstner, Eduardo
Rodríguez de Rivera Campillo, Ma Eugenia
Viñas, Miquel
Keywords: Esclerosi tuberosa
Malalties hereditàries
Manifestacions orals de les malalties
Tuberosis sclerosis
Genetic diseases
Oral manifestations of general diseases
Issue Date: 2007
Publisher: Groupement International pour la Recherche Scientifique en Stomatologie et Odontologie
Abstract: Tuberous sclerosis (TS) or Bourneville"s disease is a rare, multisystemic genetic disorder. It involves alterations to ectodermal and mesodermal cell differentiation and proliferation, causing benign hamartomatous tumors, neurofibromas and angiofibromas in the brain and other vital organs including the kidney, heart, eyes, lungs, skin and mucosa. It also affects the central nervous system and produces neurological dysfunctions such as seizures, mental retardation and behavior disorders. Tuberous (rootshaped) growths develop in the brain, and calcify over time, becoming hard and sclerotic, hence the name given to the disease. Although inheritance is autosomal dominant, 60-70% of cases occur through spontaneous mutations. The disease is related to some mutations or alterations in two genes, named TSC1 and TSC2. Discovered in 1997, TSC1 is located on chromosome 9q34 and produces a protein called hamartin. TSC2, discovered in 1993, is located on chromosome 16p13 and produces a protein called tuberin. The prevalence of the disease is 1/6000-10,000 live newborns, and it is estimated that there are 1-2 million sufferers worldwide. This paper presents a literature review and a family case report of a mother and two of her daughters with oral features of TS
Note: Reproducció del document publicat a:
It is part of: Bulletin du GIRSO, 2007, vol. 48, num. 1, p. 8-14
ISSN: 0250-4693
Appears in Collections:Articles publicats en revistes (Odontostomatologia)

Files in This Item:
File Description SizeFormat 
559040.pdf777.29 kBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.