Epiphyseal intramedullary osteoid osteoma in the distal radius: A case report and literature review.
Ontology highlight
ABSTRACT:
SUBMITTER: Park J
PROVIDER: S-EPMC8113715 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Osteoid osteoma (OO) of the coracoid is a rare entity that may present with variable symptoms from shoulder leading to delay in diagnosis and treatment. We present the clinical and radiological findings and management of one such case along with a review of similar cases reported in the literature. There was a delay of 2 years in diagnosis, which was later confirmed by computed tomography in addition to magnetic resonance imaging (MRI). The lesion was accessed arthroscopically and excised by unroofing and curettage. "OO" should be included in the differential diagnosis of shoulder pain in young patients not responding to long-term conservative treatment. Arthroscopic excision and curettage provide a good choice for management, with low morbidity and rapid recovery.
| S-EPMC4849236 | biostudies-literature
Project description:Osteoid osteoma (OO) is a small and painful benign osteoblastic tumour located preferentially in the shaft of long bones near the metaphyseal junctions, with a predilection for the lower limbs. Juxta- and intra-articular OOs are rare and even though hip, elbow, and talus are the most commonly reported locations, they may be found in any joint accounting for approximately 13% of all osteoid osteomas. There is usually a significant time delay between symptom initiation and diagnosis when the lesion is present in an uncommon location due to the diagnostic challenge it presents due to the lack of classical clinical signs and/or radiographic features found in the extra-articular lesions. A case of a distal humerus OO of a 15-year-old girl is presented to point out that a confounding factor, such as a previous paediatric supracondylar fracture, may further delay the already difficult diagnosis of a juxta- or intra-articular osteoid osteoma and also to emphasize the possibility of arthroscopic treatment of such lesions.
| S-EPMC3603655 | biostudies-other
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:RationaleSpinal intramedullary tuberculoma (IMTB) is a rare disease that accounts for 1 to 2/100,000 patients with tuberculosis. We presented a case with pulmonary tuberculosis and concurrent IMTB at C3 to C5 level and reviewed the recent case series and discussed the diagnosis, treatment, and outcome.Patient concernsA 33-year-old male had concurrent pulmonary TB and IMTB at the C3 to C5 level. He had quadriplegia (muscle power 0 at 4 limbs) and sensory loss below C5 level. He also had incontinence, anal tone loss, and paradoxical respiratory pattern.DiagnosisSpinal magnetic resonance imaging (MRI) showed a 25 11mm intramedullary lesion at C3/C4 level. Under the impression of IMTB, he underwent surgery.InterventionWe performed C3 to C5 laminectomy and en bloc removal of the tumor. The patient kept receiving anti-TB medications after the surgery.OutcomeHis 4 limbs muscle power had improved but could not be liberated from the endotracheal tube, so tracheostomy was performed. Muscle power gradually increased to 3 points in his upper limbs and to 2 points in his lower limbs. Sensation in his 4 limbs gradually improved as well.LessonsIMTB is a rare disease that should be treated with a combination of medication and surgery. For patients with prominent spinal cord compression and neurological symptoms, early operation to remove the tumor is necessary.
| S-EPMC5728842 | biostudies-literature
Project description:BackgroundIntramedullary hemorrhages involving spinal hemangioblastomas are rare. They are frequently associated with devastating neurologic outcomes, despite with emergent surgical intervention. Here, we presented an example of an intramedullary hemorrhage occurring in a spinal hemangioblastoma, where the patient markedly improved with surgery. Additionally, the appropriate literature was reviewed (including intraoperative video).Case descriptionA 49-year-old female with a 4-year history of tingling in the left lower extremity presented with vomiting, stepwise worsening of bilateral scapular pain, new upper motor neuron signs, and severe sensory loss bilaterally below C4 on the left and T4 on the right. The magnetic resonance imaging demonstrated a well-circumscribed, uniformly enhancing intramedullary tumor at the C2 level with hyperintensity on the T2 study consistent with acute hemorrhage and cord edema. An urgent C2 laminectomy was performed for gross total tumor resection. Intraoperatively, intramedullary hemorrhage was identified anterior to the tumor mass and was confirmed histopathologically. Postoperatively, the patient had no new sensorimotor deficits and fully recovered within two postoperative months.ConclusionsPatients presenting with acute intramedullary hemorrhage within hemangioblastomas of the spinal cord may demonstrate significant postoperative neurological recovery.
| S-EPMC6293603 | biostudies-literature
Project description:A case of osteoid osteoma of the scaphoid presenting as painful monoarticular arthritis is presented. Degenerative arthritis, associated with osteoid osteoma of the carpus, has not been described. The implications for treatment are discussed.
| S-EPMC2686796 | biostudies-other
Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
| PRJEB72347 | ENA
Project description:Osteomas are benign slow-growing osteogenic lesions of unknown aetiology which can be central, peripheral or extraskeletal. Peripheral osteomas of the maxilla are very uncommon. We report a 72-year-old female patient who presented to the Department of Oral & Maxillofacial Surgery, Dental School of Athens, Athens, Greece, in 2015 with swelling of the palate following a tooth extraction. Clinical and radiographical features were indicative of a solitary peripheral osteoma of the hard palate. An excisional biopsy and histological examination of the lesion confirmed the diagnosis. No complications occurred during the postoperative period and there was no evidence of recurrence at a one-year follow-up.
| S-EPMC5488829 | biostudies-other
Project description:Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chromosome 4p14 microduplication. The authors review clinical features of 30 reported cases of distal 22q11.2 duplications. Common features include developmental delay (93%), neuropsychiatric features (26%), and nonspecific facial dysmorphisms (74%). In 70% of cases, the distal 22q11.2 duplications were inherited, and the majority of the carrier parents were phenotypically normal. Furthermore, 30% of probands carried an additional copy number variant. Review of the phenotype in individuals carrying microduplications involving similar low copy repeats (LCR) failed to establish any clear genotype-phenotype correlations. Distal 22q11.2 duplications represent a major challenge for genetic counseling and prediction of clinical consequences. Our report suggests a pathogenic role of distal 22q11.2 duplications and supports a "multiple hit" hypothesis underlying its variable expressivity and phenotypic severity.
| S-EPMC5673001 | biostudies-literature
Project description:BackgroundIntramedullary spinal cord metastasis (ISCM) of malignant tumors rarely happens. To the best of our knowledge, only five cases of ISCM from esophageal cancer have been reported in literature. We here report the sixth descripted case of ISCM from esophageal cancer.Case presentationA 68-year-old male presented with weakness of right limbs and localized neck pain two years after diagnosed esophageal squamous cell carcinoma. The gadolinium enhanced Magnetic resonance imaging (MRI) of cervical spine showed a mixed-intense intramedullary tumor with typical more intense thin rim of peripheral enhancement in C4-C5. The patient died fifteen days after diagnosis of irreversible respiratory and circulatory failures. An autopsy was refused by his family.ConclusionsThis case highlights the importance of gadolinium enhanced MRI for diagnosis in ISCM. We believe that early diagnosis and surgery for selected patients shows helpfulness to save their neurologic function and improve quality of life.
| S-EPMC9993626 | biostudies-literature