ArticleScientific reports2018
Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 16 citations in OpenAlex.
- Tuberous sclerosis complex with ovarian endometrioma misdiagnosed as multiple metastases: a case report.Frontiers in medicine · 2026Article
- [Musculoskeletal manifestations of neurofibromatosis type 1 (von Recklinghausen's disease) and tuberous sclerosis (Bourneville's disease)].Der Radiologe · 2021Review
- Uncommon radiologic computed tomography appearances of the chest in patients with lymphangioleiomyomatosis.Scientific reports · 2021Article
- Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Review
- Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.The journal of pathology. Clinical research · 2018Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous-sclerosis-complex (TSC) is associated with a high lifetime risk of severe complications. Clinical manifestations are largely variable and diagnosis is often missed. Sclerotic-bone-lesions (SBL) could represent a potential imaging biomarker for the diagnosis of TSC. In this study, computed tomography (CT) data sets of 49 TSC patients (31 females) were included and compared to an age/sex matched control group. Imaging features of SBLs included frequency, size and location pattern. Sensitivities, specificities and cutoff values for the diagnosis of TSC were established for the skull, thorax, and abdomen/pelvis. In TSC patients, 3439 SBLs were detected, including 665 skull SBLs, 1426 thoracal SBLs and 1348 abdominal/pelvic SBLs. In the matched control-collective, 157 SBLs could be found. The frequency of SBLs enabled a reliable differentiation between TSC patients and the control collective with the following sensitivities and specificities. Skull: ≥5 SBLs, 0.783, 1; thorax: ≥4 SBLs, 0.967, 0.967; abdomen/pelvis: ≥5 SBLs: 0.938, 0.906. SBL size was significantly larger compared to controls (p < 0.05). Based on the frequency, size and location pattern of SBLs TSC can be suspected. SBLs may serve as a potential imaging biomarker in the workup of TSC patients.
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