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Atypical Presentation of Plasmacytoma in a Young Woman.
Cureus
October 2024
Internal Medicine, Campbell University School of Osteopathic Medicine, Lillington, USA.
Article Synopsis
- * Subsequent tests, including a bone marrow biopsy and PET scan, led to the diagnosis of a solitary plasmacytoma (SP), which is a rare tumor type, highlighting the unusual presentation of the condition in a patient experiencing chest pain.
- * The patient received localized radiation therapy for treatment, while also being monitored for the potential progression to multiple myeloma (MM), emphasizing the need for ongoing surveillance in such cases.
A Unique Case of Familial Expansile Osteolysis: Findings on 99mTc-MDP Bone Scan.
Clin Nucl Med
December 2023
From the Department of Radiology, Mayo Clinic, Rochester, MN.
Familial expansile osteolysis is an exceedingly rare autosomal dominant bone dysplasia, which can have overlapping features with Paget disease and expansile skeletal hyperphosphatasia. We present a novel case of familial expansile osteolysis evaluated on 99mTc-MDP bone scan with correlative radiographs and CT.
View Article and Find Full Text PDFEarly identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.
Bone
May 2023
Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:
Introduction: Ultra-rare mendelian osteolytic disorders caused by different length in-frame activating duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) comprise familial expansile osteolysis (FEO), expansile skeletal hyperphosphatasia (ESH), early-onset familial Paget's disease of bone (PDB2), juvenile Paget's disease 2 (JPD2), and panostotic expansile bone disease (PEBD). FEO typically presents with childhood-onset deafness followed by resorption of permanent dentition, and then appendicular bone pain, fractures, and deformities from progressive focal expansile osteolytic lesions emerging from a background of generalized high bone turnover. An 18-bp duplication in TNFRSF11A has been reported in all kindreds with FEO, whereas a 12-bp duplication was found in the young man with PEBD complicated by a massive jaw tumor.
View Article and Find Full Text PDFPractice Dilemma: Expanding Melanonychia in the Paediatric Setting.
Skin Appendage Disord
January 2023
Department of Dermatology, St. George Hospital, Sydney, New South Wales, Australia.
Introduction: Differentiating between benign and malignant pathology in melanonychia can be challenging, particularly in paediatric patients as nail biopsies often require general anaesthesia.
Case Presentation: An 11-year-old healthy Vietnamese female presented with a pigmented right third fingernail. It was first noticed at age 1 and had gradually involved the whole nail plate by age 4.
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
J Bone Miner Metab
March 2023
Department of Pediatrics, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
Introduction: Paget's disease of bone (PDB) is a skeletal disorder characterized by disorganized bone remodeling due to abnormal osteoclasts. Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A) gene encodes the receptor activator of nuclear factor kappa B (RANK), which has a critical role in osteoclast function. There are five types of rare PDB and related osteolytic disorders due to TNFRSF11A tandem duplication variants so far, including familial expansile osteolysis (84dup18), expansile skeletal hyperphosphatasia (84dup15), early-onset familial PDB (77dup27), juvenile PDB (87dup15), and panostotic expansile bone disease (90dup12).
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