Atypical Enostoses—Series of Ten Cases and Literature Review

Bedard, Thomas; Mohammed, Mujtaba; Serinelli, Serenella; Damron, Timothy A.

doi:10.3390/medicina56100534

Cited by 5 publications

(2 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Patients with FAP are at high risk of medulloblastoma as well as adrenal adenocarcinoma [20]. Osteomas require differential diagnosis as they may simulate bone islands [21].…”

Section: Discussionmentioning

confidence: 99%

Gardner syndrome with desmoid tumors – case report

Rycyk,

Knop-Chodyła,

Kasztelan-Szczerbińska

et al. 2024

J Pre Clin Clin Res.

View full text Add to dashboard Cite

Introduction. Gardner syndrome (GS) is characterized as a type of familial adenomatous polyposis (FAP), an autosomal dominant inherited disease which, if left untreated, with 100% risk leads to the development of colorectal cancer. Case Report. The case is presented a of a 40-year-old man who was diagnosed with Gardner syndrome at the age of 12. During his hospitalization, the patient underwent gastroscopy, colonoscopy, and computed tomography (CT) scans of head, neck and abdomen. The examination revealed the presence of extra-intestinal manifestations of GS: desmoid tumours, osteomas, and dental cavities. At present, the patient is scheduled for enteroscopy. Conclusions. GS is a diagnosis of genetic testing, although clinicians should be aware of the fact that up to 30% of GS cases are detected as de novo mutations. The physical examination should always be performed with accuracy to avoid a too late diagnosis of FAP, including GS, which may result in death.

show abstract

“…Patients with FAP are at high risk of medulloblastoma as well as adrenal adenocarcinoma [20]. Osteomas require differential diagnosis as they may simulate bone islands [21].…”

Section: Discussionmentioning

confidence: 99%

Gardner syndrome with desmoid tumors – case report

Rycyk,

Knop-Chodyła,

Kasztelan-Szczerbińska

et al. 2024

J Pre Clin Clin Res.

View full text Add to dashboard Cite

show abstract

“…Further investigations confirmed osteoid osteoma, successfully treated with radiofrequency ablation [ 60 ]. A case of osteoid osteoma misdiagnosed as a bone island (enostosis) in a female patient with osteopoikilia was also reported in the literature [ 61 ].…”

Section: Atypical Osteoid Osteomas: Presentation and Diagnosismentioning

confidence: 99%

Osteoid Osteoma, a Diagnostic Problem: A Series of Atypical and Mimicking Presentations and Review of the Recent Literature

Napora

Wałejko

Mazurek

2023

JCM

View full text Add to dashboard Cite

Osteoid osteoma (OO) is a common benign bone tumour, usually affecting young people. Typically, it is localised to the diaphyses or metaphyses of long bones. The classical manifestation includes distinctive night pain, almost always present, responding well to non-steroidal anti-inflammatory drugs, sometimes accompanied by complaints due to physical activity, and a typical picture on additional tests. A characteristic of osteoid osteoma is the presence of a nidus, usually visible on imaging tests. The nidus generally presents as a single, round lytic lesion up to 1 cm in diameter, surrounded by an area of reactive ossification. However, OO is a multifaceted neoplasm, and its diagnosis can cause numerous difficulties. OO can mimic multiple diseases and vice versa, which often leads to a prolonged diagnostic and therapeutic path and associated complications. There are few literature reviews about the differentiation and diagnostic difficulties of osteoid osteoma. Very effective therapies for this tumour are known, such as ablation and resection. Enhanced detection of osteoid osteoma could result in faster diagnosis and less suffering for the patient, avoidance of complications, and reduced costs of incorrect and prolonged treatment.

show abstract

Deep learning–based diagnosis of osteoblastic bone metastases and bone islands in computed tomograph images: a multicenter diagnostic study

et al. 2023

View full text Add to dashboard Cite

Objective To develop and validate a deep learning (DL) model based on CT for differentiating bone islands and osteoblastic bone metastases. Materials and methods The patients with sclerosing bone lesions (SBLs) were retrospectively included in three hospitals. The images from site 1 were randomly assigned to the training (70%) and intrinsic verification (10%) datasets for developing the two-dimensional (2D) DL model (single-slice input) and “2.5-dimensional” (2.5D) DL model (three-slice input) and to the internal validation dataset (20%) for evaluating the performance of both models. The diagnostic performance was evaluated using the internal validation set from site 1 and additional external validation datasets from site 2 and site 3. And statistically analyze the performance of 2D and 2.5D DL models. Results In total, 1918 SBLs in 728 patients in site 1, 122 SBLs in 71 patients in site 2, and 71 SBLs in 47 patients in site 3 were used to develop and test the 2D and 2.5D DL models. The best performance was obtained using the 2.5D DL model, which achieved an AUC of 0.996 (95% confidence interval [CI], 0.995–0.996), 0.958 (95% CI, 0.958–0.960), and 0.952 (95% CI, 0.951–0.953) and accuracies of 0.950, 0.902, and 0.863 for the internal validation set, the external validation set from site 2 and site 3, respectively. Conclusion A DL model based on a three-slice CT image input (2.5D DL model) can improve the prediction of osteoblastic bone metastases, which can facilitate clinical decision-making. Key Points • This study investigated the value of deep learning models in identifying bone islands and osteoblastic bone metastases. • Three-slice CT image input (2.5D DL model) outweighed the 2D model in the classification of sclerosing bone lesions. • The 2.5D deep learning model showed excellent performance using the internal (AUC, 0.996) and two external (AUC, 0.958; AUC, 0.952) validation sets.

show abstract

Atypical Enostoses—Series of Ten Cases and Literature Review

Cited by 5 publications

References 18 publications

Gardner syndrome with desmoid tumors – case report

Gardner syndrome with desmoid tumors – case report

Osteoid Osteoma, a Diagnostic Problem: A Series of Atypical and Mimicking Presentations and Review of the Recent Literature

Deep learning–based diagnosis of osteoblastic bone metastases and bone islands in computed tomograph images: a multicenter diagnostic study

Contact Info

Product

Resources

About