Sclérose tubéreuse de Bourneville : mise au point

Pfirmann, Pierre; Combe, C.; Rigothier, Claire

doi:10.1016/j.revmed.2021.03.003

Cited by 6 publications

(2 citation statements)

References 62 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The incidence of this disease is currently reported with the frequency of roughly 1/6000 to 1/10,000 in live births through multiple studies across Europe. [8][9][10] It is possible to diagnose this disease during pregnancy and the early postnatal through advanced neuroradiologic techniques, genetic testing, and Electroencephalography (EEG) which can influence outcomes of the disease. 11,12 There has not been reported that a difference in incidence according to sex or ethnicity exists.…”

Section: Epidemiologymentioning

confidence: 99%

“…11,12 There has not been reported that a difference in incidence according to sex or ethnicity exists. 10 Though the disease follows an autosomal dominant pattern, it has been reported that 70% of cases could be caused by sporadic somatic mutations. It is also worth mentioning that cases of familial transmission have been associated with mild to moderate disease and present changes in TSC1 gene more frequently.…”

Section: Epidemiologymentioning

confidence: 99%

See 1 more Smart Citation

The tuberous sclerosis complex: a review of the literature

Bonilla,

Rodriguez Ceja,

Garcia Santiago

et al. 2024

Int J Contemp Pediatr

View full text Add to dashboard Cite

Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, this leads to dysregulation of the mechanistic target of rapamycin (mTOR) pathway resulting in cellular hyperplasia and the formation of benign tumors in various organs, including the brain and skin. Clinical manifestations encompass a wide range of mainly neurological and dermatological symptoms, often presenting during early childhood and posing diagnostic challenges due to phenotypic variability. Recent advancements in diagnostic criteria, genetic testing, and imaging techniques have facilitated earlier diagnosis and increased disease incidence awareness. Neurologically, TSC commonly presents with cortical tubers, subependymal nodules (SENs), and epilepsy, with seizure control being paramount in preventing long-term neurodevelopmental sequelae. Dermatologically, hypomelanotic macules, facial angiofibromas, and ungual fibromas are hallmark features, often causing significant psychological distress due to disfigurement. Management of TSC requires a multidisciplinary approach, with emerging therapies such as mTOR inhibitors showing promise in addressing both neurological and dermatological manifestations. Early intervention, including epilepsy surgery and targeted treatments for skin lesions, is essential for optimizing outcomes and improving the quality of life for patients with TSC. Continued research into novel therapeutic modalities holds potential for further enhancing the management and prognosis of this complex disorder.

show abstract

Section: Epidemiologymentioning

confidence: 99%

Section: Epidemiologymentioning

confidence: 99%

The tuberous sclerosis complex: a review of the literature

Bonilla,

Rodriguez Ceja,

Garcia Santiago

et al. 2024

Int J Contemp Pediatr

View full text Add to dashboard Cite

show abstract

LncRNA MRPL39 inhibits cell proliferation and migration by regulating miR-130/TSC1 axis in non-small cell lung cancer

Fan,

Bao,

Zhao

et al. 2024

3 Biotech

View full text Add to dashboard Cite

Tuberous sclerosis complex: a case report and literature review

Li,

Si,

Zhao

et al. 2023

Ital J Pediatr

View full text Add to dashboard Cite

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with different initial symptoms and complex clinical manifestations. A 14-year-old female patient presented with persistent fever and severe headache. Medical imaging examinations revealed multiple abnormal intracranial lesions. The patient had previously been misdiagnosed with “encephalitis and acute disseminated encephalomyelitis” after visiting numerous hospitals. Eventually, by combing the characteristics of the case and genetic testing results, the patient was diagnosed with TSC accompanied by Mycoplasma pneumoniae infection. The purpose of this case report and literature review is to improve understanding of the clinical diagnosis and treatment of TSC so as to avoid misdiagnosis, missed diagnosis, and overtreatment.

show abstract

Sclérose tubéreuse de Bourneville : mise au point

Cited by 6 publications

References 62 publications

The tuberous sclerosis complex: a review of the literature

The tuberous sclerosis complex: a review of the literature

LncRNA MRPL39 inhibits cell proliferation and migration by regulating miR-130/TSC1 axis in non-small cell lung cancer

Tuberous sclerosis complex: a case report and literature review

Contact Info

Product

Resources

About