Results 51 to 60 of about 3,066 (177)

Melorheostosis of spine: A very rare clinical entity

Indian Spine Journal, 2021
Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which bone cortex widens and becomes hyperdense in a sclerotomal distribution.
Jayprakash V Modi, Harshil R Patel
doaj   +1 more source

Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study

JBMR Plus, 2019
Melorheostosis is a rare dysostosis involving cortical bone overgrowth that affects the appendicular skeleton. Patients present with pain, deformities, contractures, range of motion limitation(s), and limb swelling.
Smita Jha, Edward W Cowen, Tanya J Lehky, Katharine Alter, Lauren Flynn, James C Reynolds, Eileen Lange, James D Katz, Joan C Marini, Richard M Siegel, Timothy Bhattacharyya   +10 more
doaj   +1 more source

Localised melorheostosis [PDF]

, 2017
<p class="abstract"><span lang="EN-IN">Melorheostosis is a sclerosing bone dysplasia of unknown aetiology. Diagnosis is mainly based on a combination of clinical and imaging studies.
Mathew Varghese, Varghese, Mathew, Sunny Agarwal, Suresh B, B, Suresh, Khanna, Vishesh, Vishesh Khanna, Agarwal, Sunny   +7 more
core   +1 more source

A rare case of melorheostosis of the hand in a pediatric patient

, 2019
Melorheostosis, a rare mesenchymal dysplasia of bone, generally affects about 0.001% of people globally with about 400 cases total being reported. Melorheostosis of the hand, especially in the pediatric population, has been seldom reported.
Clemmons, James A., Wilson, Robert H., Khaleel, Ibrahim M., Salib, Christopher G., Oyetan, Ore, Willacy, Rolanda A.   +5 more
core   +2 more sources

3D Multicellular Scaffold Based Model for Advancing Bone Disorder Research

Advanced Functional Materials, Volume 36, Issue 13, 12 February 2026.
A scalable 3D multicellular in vitro bone model engineered by integrating osteoblasts, osteoclasts, and endothelial cells on biodegradable scaffolds. The system recapitulates key features of human bone remodeling and disease pathology. As a proof of concept, the model mimics osteogenesis imperfecta, demonstrating its potential as a physiologically ...
Gali Guterman‐Ram, Majd Machour, Janette Zavin, Roy Meretzki, Reut Lev‐Ari, Shulamit Levenberg   +5 more
wiley   +1 more source

Osteopoikilosis—the incidental finding of a rare bone dysplasia: A case report

Clinical Case Reports, Volume 12, Issue 7, July 2024.
Key Clinical Message Osteopoikilosis is an asymptomatic osteosclerotic dysplasia, of autosomal dominant inheritance, which does not cause deformity or alteration in bone development, of incidental diagnosis. The differential diagnosis should be made with osteoblastic metastases, among others, especially if it is asymmetric and in patients over 50 years
Tejera‐Pérez Rosa‐Juana, Aguilar‐López Ana, Marfil‐Daza Julia, Castaño‐Pérez Sara   +3 more
wiley   +1 more source

Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late‐Onset Generalized Morphea: A New Buschke‐Ollendorf Syndrome Variant

Case Reports in Dermatological Medicine, Volume 2016, Issue 1, 2016., 2016
Introduction. Buschke‐Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1.
Benjamin Korman, Jun Wei, Anne Laumann, Polly Ferguson, John Varga, Jeung-Hoon Lee   +5 more
wiley   +1 more source

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway

Molecular Genetics &Genomic Medicine, Volume 12, Issue 5, May 2024.
Osteomesopyknosis is a rare bone sclerosing disorder of unelucidated pathophysiology with a presumably autosomal dominant transmission. However, the causal genes are unknown. Here we report a new case of osteomesopyknosis associated with a missense ALOX5 variant predicted to induce protein misfolding and proteasomal degradation.
Jose L. Fernandez‐Luna, José L. Hernández, Soraya Curiel‐Olmo, Néstor A. Martínez‐Amador, Ana I. Vega, Remedios Quirce, Santiago Montes‐Moreno, Olga Gutierrez, Alvaro del Real, Carolina Sañudo, Jose A. Riancho   +10 more
wiley   +1 more source

Oral Rehabilitation of an Osteopetrosis Patient with Osteomyelitis

Case Reports in Dentistry, Volume 2016, Issue 1, 2016., 2016
Osteopetrosis is a congenital disorder characterized by increasing osteoclastic function resulting in osteomyelitis in the jaws. Orofacial findings in osteopetrosis patients are unerupted, malformed, or delayed teeth and many dental caries due to vulnerable enamel and dentin and osteomyelitis.
Tamer Celakil, Merve Dogan, Bilge Gokcen Rohlig, Gulumser Evlioglu, Haluk Keskin, Leandro N. de Souza   +5 more
wiley   +1 more source

A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis

, 2007
Recent studies have reported loss of function mutations in the LEMD3 gene, encoding an inner nuclear membrane protein that influences Smad signaling, as a cause of osteopoikilosis, Buschke-Ollendorff syndrome, and melorheostosis. We investigated LEMD3 in
Peach, Chris A., Couto, A. R., Peach, C. A., Couto, Ana. R., Zhang, Yun, Chapman, K., Zhang, Y., Bruges-Armas, Jacome, Chapmsn, Kay, Brown, M.A., Brown, Matthew A., Bruges-Armas, J., Wordsworth, B. P., Wordsworth, B. Paul   +13 more
core   +1 more source