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Less common manifestations in TSC.
Boronat, Susana; Barber, Ignasi.
Afiliação
  • Boronat S; Department of Clinical Genetics, Hospital Universitari Sagrat Cor, Barcelona, Spain.
  • Barber I; Department of Pediatric Neurology, Hospital Quirónsalud Vallès, Sabadell, Spain.
Am J Med Genet C Semin Med Genet ; 178(3): 348-354, 2018 09.
Article em En | MEDLINE | ID: mdl-30156054
ABSTRACT
Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected, such as brain, skin, eye, heart, bone, kidney, or lung. Typical lesions of TSC usually are those included as major criteria, including angiofibromas, hypomelanotic macules, tubers, subependymal nodules, angiomyolipomas, cardiac rhabdomyomas, and lymphangioleiomyomatosis. However, there are many other manifestations less frequent and/or less well known, many of them not included as clinical diagnostic criteria that are part of the clinical spectrum of TSC. The focus of this review will be on these less common and less well-known manifestations of TSC. Among the rare manifestations, we will discuss some clinical findings including arteriopathy, arachnoid cysts, lymphatic involvement, chordomas, gynecological, endocrine, and gastrointestinal findings. Among the manifestations that are very frequent but much less well known, we find the sclerotic bone lesions. Although they are very frequent in TSC they have been largely overlooked and not considered diagnostic criteria, mainly because they are asymptomatic. However, it is important to know their typical characteristics to avoid misdiagnosing them as metastasis.
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Texto completo: 1 Coleções: 01-internacional Temas: Geral / Tipos_de_cancer / Outros_tipos Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa / Aneurisma Intracraniano / Cistos Aracnóideos Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet C Semin Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Espanha

Texto completo: 1 Coleções: 01-internacional Temas: Geral / Tipos_de_cancer / Outros_tipos Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa / Aneurisma Intracraniano / Cistos Aracnóideos Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet C Semin Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Espanha