Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Familial florid osseous dysplasia: a report with review of the literature.

ABSTRACT: There are three types of osseous dysplasia: periapical cemental dysplasia (PCD), focal cemento-osseous dysplasia (FCD) and florid osseous dysplasia (FOD). While PCD is often observed in mandibular anterior teeth, FCD mainly affects mandibular posterior teeth. FOD, on the other hand, commonly involves both jaws. FOD is a type of sclerosing disease that is characterised by intense opaque masses and many areas with different densities. Genetic heritance of FOD is unusual, with only a few reported cases. We describe a case of FOD that affected three family members, discuss its clinical, radiological and histological characteristics, and review the literature.

SUBMITTER: Kucukkurt S

PROVIDER: S-EPMC4823557 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Familial florid osseous dysplasia: a report with review of the literature.

Kucukkurt Sercan S Rzayev Sharif S Baris Emre E Atac Mustafa Sancar MS

BMJ case reports 20160330

There are three types of osseous dysplasia: periapical cemental dysplasia (PCD), focal cemento-osseous dysplasia (FCD) and florid osseous dysplasia (FOD). While PCD is often observed in mandibular anterior teeth, FCD mainly affects mandibular posterior teeth. FOD, on the other hand, commonly involves both jaws. FOD is a type of sclerosing disease that is characterised by intense opaque masses and many areas with different densities. Genetic heritance of FOD is unusual, with only a few reported c ...[more]

PMID: 27030456

Similar Datasets

Familial florid Cemento-osseous dysplasia - case report and review of literature.

Project description:Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

| S-EPMC4693694 | biostudies-other

Schimke immuno-osseous dysplasia: case report and review of 25 patients.

Project description:Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown.

| S-EPMC1734237 | biostudies-other

Treatment and molecular analysis of bullous pemphigoid with tofacitinib: a case report and review of current literature

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

Primary osseous chondrosarcoma in the lumbar spine: case report and literature review with analysis.

Project description:Primary spinal chondrosarcoma (CS) is rare. Only a few previous case reports have included a detailed description of the surgical process used to treat the CS. In addition, a paucity of documentation exists comparing differences in the outcomes between the approaches in en bloc resection. Here, we present a case of CS in the lumbar (L) spine treated with two-stage (anterior and posterior approach) en bloc surgery and analyze the differences between one-stage and two-stage approaches in the treatment of primary lumbar CS. A 30-year-old male patient with an L3 vertebral body CS presented with back pain and lower limb weakness. Lumbar spine magnetic resonance imaging (MRI) showed an L3 vertebral body tumor with cord and root compression. Two-stage surgery comprising posterior total laminectomy and transpedicular screw fixation over L2-L4 in the first stage, with subsequent anterior corpectomy, cage implantation, and anterior lumbar interbody fusion was performed to achieve total tumor removal and stabilization. The patient's symptoms improved postoperatively, with no recurrence as of the 2-year follow-up. The analysis of previous similar cases showed that two-stage surgery, compared with one-stage surgery, appears to be beneficial in lumbar spine multisegment disease, providing a lower recurrence rate.

| S-EPMC8649472 | biostudies-literature

Familial chordoma: A case report and review of the literature.

Project description:Familial skull base chordoma is a rare tumor derived from the remnants of the embryonic notochord. The present study describes the clinical presentation of 4 cases of skull base chordomas in a family. A 15-year-old female received staged surgeries and was pathologically confirmed with a diagnosis of skull base chordoma. Among the patient's family, 2 members had previously undergone surgery and were pathologically confirmed with chordomas; 1 family member had also received radiation therapy. Furthermore, the patient's cousin, an 18-year-old male, was confirmed to have this condition by epipharyngoscopy. All confirmed cases within the family remained alive with the condition. A literature review of familial chordoma was undertaken and 8 chordoma pedigrees were found. Familial chordoma was rare, with an estimated rate of 0.4% in all chordomas. The skull base was the predominant location for familial chordoma. Compared with sporadic chordoma, familial chordomas were diagnosed at a younger age. The brachyury gene was strongly associated with familial chordomas, however, the exact pathogenesis and genetics mechanisms remains unclear.

| S-EPMC4665336 | biostudies-literature

Familial episodic pain syndrome: a case report and literature review.

Project description:The purpose of this case report and literature review is to show that familial episodic pain syndrome (FEPS) is a non-inflammatory genetically inherited pain syndrome. A 3-year-old boy presented at our hospital with pain in both his forearms and lower limbs below the knees for more than 3 years. There were no abnormalities in the blood tests, blood smears, liver and kidney function tests, trace elements tests, cellular immunity test, humoral immunity test, autoantibody tests, C-reactive protein (CRP) test, erythrocyte sedimentation rate (ESR) test, and tumor-related and bone marrow cytology examinations. Additionally, the imaging examination results showed no abnormalities. From the patient's medical history, we found that the mother of the child had a family history of a similar disease. To date, only 21 cases of FEPS3 caused by the sodium voltage-gated channel alpha subunit 11A (SCN11A) gene mutation have been reported. Although the age of onset is different, most of them are inherited in families. The results of the genetic examination revealed that the pain mainly came from the genetic inheritance of the maternal family line. The whole exon gene test revealed that the pain was caused by 2 heterozygous mutations of c.674G > T and c.671T > C in the SCN11A gene.

| S-EPMC8908130 | biostudies-literature

Hemoptysis caused by Parvimonas micra: case report and literature review

Project description:Hemoptysis caused by Parvimonas micra: case report and literature review

| PRJEB72347 | ENA

Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review.

Project description:Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature, supernumerary teeth, and sinus and middle ear infections. It is caused by Runt-related transcription factor 2 (RUNX2; OMIM 600211) mutations. Herein, we present a rare case of CCD with neonatal respiratory distress, who had abnormal midfacial features and wide fontanelle. Also, pectus excavatum was noted. He was transferred to our department, administered standard medical treatment, and discharged after 4 weeks. Therefore, we recommend the early suspicion and identification of this rare inherited disease to adequate treatment.

| S-EPMC8498102 | biostudies-literature

Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature.

Project description:BackgroundThe newborn malformation of primary lymphatic dysplasia (PLD), developed primarily due to PIEZO1 gene autosomal recessive mutation, is known to hinder with the lymphatic system action, causing chyle or lymph effusion into the peritoneal cavity or pleura.Case presentationA 4-years-old male subject presented with a recurrent chylothorax and bilateral lower limb edema that started at age of 6 months. Lymphoscintigraphy showed lymphangiectasia with chylothorax. The whole exome sequence consisted of Pathogenic variants in PIEZO1 gene associated with lymphatic malformation type 6 (LMPHM6).ConclusionThis is the first reported pediatric case of PIEZO1 gene mutation in Saudi Arabia. This case highlighted the wide differential diagnosis of recurrent chylothorax and lower limb edema, as well as the relative literature on the molecular foundation, clinical scale, pathophysiology, and lymphatic malformation treatment. patients can be improved via application of standardized chylothorax and lymphedema therapies. Overall, awareness of the diseases related to the thoracic lymphatic circulation should be observed as its prognosis may highly promote better approaches for its management.

| S-EPMC10238584 | biostudies-literature

Familial Trigeminal Neuralgia Treated with Stereotactic Radiosurgery: A Case Report and Literature Review.

Project description:Background:Trigeminal neuralgia (TN) is a chronic pain condition characterized by brief episodes of lancinating pain in one or more distributions of the trigeminal nerve. Episodes of pain secondary to TN are triggered by certain stimuli, such as chewing, shaving, or touching the face. Although a common cause of TN is compression of the trigeminal nerve root entry zone by an artery or vein, many cases of TN are idiopathic. However, there have been limited reports in the literature of familial TN. Case Presentation:A 31-year-old male presented with classic TN symptoms in the right V1/V2 distribution that recently progressed to the V3 distribution a case of familial TN. His father an brother both have TN. Carbamazepine, oxcarbazepine, and rhizotomy did not improve his symptoms. He was treated with stereotactic radiosurgery (SRS) with a dose of 85 Gy delivered to the proximal trigeminal root with improvement in his pain. We also review and summarize the over 160 cases of familial TN found in the literature. Conclusions:This is the first reported case of familial TN treated with SRS. Patients with familial TN are more likely to have bilateral disease, to present with earlier onset, and to become refractory to medical therapy and may require more aggressive approaches. We propose that SRS is a good treatment approach for these patients.

| S-EPMC5705085 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data