Presentation
We present a father and daughter with endosteal hyperostosis. [jmedicalcasereports.biomedcentral.com]
Severe sclerosis of the jaw bones was present only in a 28-year-old woman. The 2-year-son showed only focal sclerosis in the mandible, and his grandmother had minimal changes in the skeleton. [link.springer.com]
Nuclear medicine An increase in radiotracer uptake is usually present on late phase bone scans 2. [radiopaedia.org]
Acronym WENHY Synonyms Endosteal hyperostosis autosomal dominant Hyperostosis corticalis generalisata benign form of Worth with torus palatinus Osteosclerosis autosomal dominant Worth syndrome Any medical or genetic information present in this entry is [uniprot.org]
@misc{etde_5350984, title = {Case report 546: Endosteal hyperostosis (Worth type)} author = {Irie, Toshiyuki, Takahashi, Motoichiro, and Kaneko, Masao} abstractNote = {A case of endosteal hyperostosis (Worth type) in a 35 year old Japanese man was presented [osti.gov]
Entire Body System
- Pain
He said there was nothing to be done for DISH except to try to stay active to avoid stiffening of the joints and back, and take pain medicine when necessary. He tried 10 or so pain meds without finding anything that worked very well. [connect.mayoclinic.org]
WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. [uniprot.org]
When melorheostosis does manifest clinically, the most common presentation is of joint contracture or pain, which are more common in adults 3. Distribution Melorheostosis can be either monostotic or polyostotic and tends to be monomelic. [radiopaedia.org]
«Healio, juin 15» Make the Diagnosis: A Four-Year-Old Boy with Right Shoulder Pain Radiographs, shown here, revealed tumor growth (a) and endosteal lysis in the right scapula (b) and radius (c). MRI demonstrated a lobulated ... [educalingo.com]
But, in our patient, the absence of muscle weakness, fatigue, poor appetite, headache and pain in the limbs, important features encountered in CED, were absent. Moreover, in CED the long bones are thickened and bone prominences and tenderness occur. [jmedicalcasereports.biomedcentral.com]
- Developmental Disorder
Biallelic variants in four genes (POLR3A, POLR3B, and POLR1C and POLR3K) encoding Pol III subunits have previously been found in individuals with (neuro-) developmental disorders. [research.rug.nl]
- Short Stature
The phenotypes of the described individuals are mainly characterized by axial endosteal hyperostosis, oligodontia, short stature, and mild facial dysmorphisms. [research.rug.nl]
Cardiovascular
- Hypertension
Neurological involvement with sensorineural hearing loss, chronic intracranial hypertension, and mild corticospinal tract abnormalities were found in one case with radiological evidence of progressive bone disease at follow-up. [onlinelibrary.wiley.com]
Both showed severe sensorineural hearing loss, chronic intracranial hypertension, and mild corticospinal tract involvement. A cranial CT scan documented a reduction in size of the posterior fossa with encroachment at the foramen magnum. [jmedicalcasereports.biomedcentral.com]
Musculoskeletal
- Fracture
Classically, the affected bones in patients with endosteal hyperostosis are resistant to fracture and only two patients with a fracture have been reported [6]. Our patients were unusual in that both presented with multiple fractures. [jmedicalcasereports.biomedcentral.com]
WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. [uniprot.org]
Definition Orphanet Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture [rarediseases.oscar.ncsu.edu]
The propositus was a sixty-four-year-old man who had a cemented total hip replacement for the treatment of arthritis that had developed after a traumatic hip dislocation without a fracture. [semanticscholar.org]
No dysmorphism, abnormal facial features, bone fractures, or cranial nerve involvement was found. [repositorio.unbosque.edu.co]
- Bone Pain
WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. [uniprot.org]
Neurologic
- Cranial Nerve Involvement
No dysmorphism, abnormal facial features, bone fractures, or cranial nerve involvement was found. [repositorio.unbosque.edu.co]
Workup
X-Ray
- Increased Bone Density
Go To Source: Orphanet Classification Symptoms Medical Term Other Names Description Increased bone mineral density Osteosclerosis of bones, Osteosclerosis, Increased bone density [more] An abnormal increase of bone mineral density, that is, of the amount [rarediseases.oscar.ncsu.edu]
Note the increased bone density of the posterior vertebral elements. [jmedicalcasereports.biomedcentral.com]
1 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 53 62 57 5 12579474 2003 2 Differential diagnosis and treatment of autosomal dominant osteosclerosis of the mandible [malacards.org]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
Maxillofacial changes, diagnostic classification and general principles of treatment]. 62 57 5 Scopelliti D...Carratelli D 10434540 1999 4 Dominant endosteal hyperostosis. [malacards.org]
The propositus was a sixty-four-year-old man who had a cemented total hip replacement for the treatment of arthritis that had developed after a traumatic hip dislocation without a fracture. [semanticscholar.org]
[…] had been differentiated from van Buchem disease because patients with the former condition were of excessive height and had syndactyly; however, both conditions map to chromosome 17q12-q21; thus, they may be allelic disorders.47 No effective medical treatment [oncohemakey.com]
«AZoNano.com, juin 07» Shockwave: Waves of the Future ... other soft tissue structures after treatment; 2) Sub-periosteal and endosteal (outer and inner bone surface) hemorrhage was seen near the point of application; ... [educalingo.com]
Prognosis
Treatment and prognosis The disease is of variable severity, but in general follows a chronic progressive course in adults and a faster course in children, occasionally resulting in substantial disability from contractures or deformity. [radiopaedia.org]
Etiology
These conditions may share an underlying etiology (loss of function mutations in the LEMD3 gene) 1. MRI Usually, the lesions show low signal on all imaging sequences, with no enhancement. [radiopaedia.org]
Since thyroid hormones are known to stimulate bone resorption, the THRA1 gene might be involved in the etiology and pathogenesis of van Buchem disease. [ncbi.nlm.nih.gov]
There is marked cortical thickening of the tibial diaphysis from both periosteal (white arrows) and endosteal (block arrow) new bone formation. should be observed and managed for symptoms. 8 Etiology and Pathogenesis of Periodontal Disease 1995a, b, 1999 [educalingo.com]
Prevention
2023 35 How Has Molecular Biology Enhanced Our Undertaking of axSpA and Its Management. 62 Fatica M...Chimenti MS 36308677 2023 36 Tooth Complications after Orthodontic Miniscrews Insertion. 62 Inchingolo AM...Dipalma G 36674316 2023 37 Denosumab Can Prevent [malacards.org]
To prevent the bone from becoming unnecessarily thick, osteoclasts resorb the bone from the endosteal side. définition de endosteal dans le dictionnaire anglais La définition de endosteal dans le dictionnaire est caractéristique de ou liée à endosteum [educalingo.com]