Results 21 to 30 of about 3,066 (177)

Somatic activating mutations in MAP2K1 cause melorheostosis

Nature Communications, 2018
Melorheostosis is characterized by bone overgrowth and associated with pain and functional impairment. Here, the authors use whole exome sequencing to identify somatic mutations in MAP2K1 in affected bone of melorheostosis patients which is associated ...
Heeseog Kang, Smita Jha, Zuoming Deng, Nadja Fratzl-Zelman, Wayne A. Cabral, Aleksandra Ivovic, Françoise Meylan, Eric P. Hanson, Eileen Lange, James Katz, Paul Roschger, Klaus Klaushofer, Edward W. Cowen, Richard M. Siegel, Joan C. Marini, Timothy Bhattacharyya   +15 more
doaj   +2 more sources

A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report [PDF]

Journal of Medical Case Reports, 2008
Introduction A case of melorheostosis in association with tricho-dento-osseous (TDO) syndrome has been encountered. Case presentation The clinical and the radiographic manifestations of melorheostosis have been encountered in a 41-year-old man. Mutations
Al Kaissi Ali, Skoumal Martin, Roetzer Katharina, Grill Franz, Klaushofer Klaus   +4 more
doaj   +3 more sources

Osteoblastoma of the Middle Phalanx of the Hand Initially Diagnosed as Melorheostosis [PDF]

Journal of Hand Surgery Global Online
Osteoblastoma of the hand is a rare tumor that is difficult to diagnose. We present a right-handed, 5-year-old boy who presented with pain and edema about the middle phalanx of the right long finger.
Kareme D. Alder, MD, Mikaela H. Sullivan, MD, Shadi A. Qasem, MD, MBA, Eric A. Loveless, MD, Courtney E. Sherman, MD, Peter M. Murray, MD   +5 more
doaj   +2 more sources

Revisiting melorheostosis: highlighting the classic dripping candle wax sign in a young female [PDF]

Central Asian Journal of Medical Hypotheses and Ethics
Melorheostosis is a rare dysplastic bone disease that is typically diagnosed in radiographic studies. The pathogenesis of melorheostosis remains unclear, with many genetic pathways suspected to play a role.
O. Ismail, F. Alnaimat
doaj   +2 more sources

Melorheostosis: A Rare Case Report with Pelvic and Lumbar Involvement [PDF]

Journal of Orthopaedic Case Reports
Introduction: Melorheostosis is an extremely rare, non-hereditary bone disorder characterized by its distinctive radiographic feature of flowing hyperostosis, reminiscent of dripping candle wax, typically appearing unilaterally in long bones.
Divya Nand Pandey, Chetan Singh, Harsh Pratap Singh, Sanjay Kumar, Ayush Prakash   +4 more
doaj   +2 more sources

Melorheostosis

Acta Orthopaedica et Traumatologica Turcica
A case of melorheostosis is introduced. ÖzetNadir bir hastalık olan melorheostosis bir vaka dolayısıyla takdim edildi.
O. Sahap Atik, Inanc Ayas, Mahmut Doral
doaj   +3 more sources

Melorheostosis is a rare bone disorder

Acta Orthopaedica et Traumatologica Turcica, 2021
It usually involves the lower extremity unilaterally and produces characteristic sclerosing cortical thickening of the bone. Etiology and pathogenesis is still unknown. It may be associated with other abnormalities of mesodermal origin. In this study, we
Feridun Cilli, Ahmet Kiral, Ahmet Sarioglu, M. Omer Arpacioglu, Haluk Kaplan   +4 more
doaj   +1 more source

Melorheostosis: A case report

Revista Brasileira de Ortopedia, 2013
Melorheostosis is a rare disease (0.9/million habitants), characterized by linear hyperostosis along the cortex bone. It can affect any bone, being more frequent in long bones. The lesions tend to be segmental and unilateral. The etiology remains unknown
Bruno Pereira Alpoim, Maria Elisa Gonçalves Ribeiro Rodrigues, António José Marques Félix, Pedro Miguel Dantas Costa Marques, Pedro Miguel Gomes Sá, Luís Fernando Nunes Pires Silva   +5 more
doaj   +4 more sources

MELORHEOSTOSIS AT LEFT LOWER LIMB OF A 22 YEARS OLD FEMALE: A RARE CASE

National Journal of Medical Research, 2020
Sclerosing bone dysplasias are skeletal abnormalities of varying severity with a wide range of radiologic, clinical, and genetic features. It is divided into Hereditary and Non-hereditary.
Thomson Manurung, Luky T Putra, M. Ruksal Saleh, M. Andry Usman   +3 more
doaj   +1 more source

Melorheostosis: The Incidental Finding of a Rare Bone Dysplasia in the Mandible on Panoramic and CBCT Images - A Case Report

Journal of Indian Academy of Oral Medicine and Radiology
Melorheostosis or osteosclerotic bone dysplasia is a rare bone dysplasia that manifests as hyperostosis of bone and usually affects appendicular skeleton, and craniofacial involvement is rare.
Prasanthi Sitaraman, Ravleen Nagi, Arvind Muthukrishnan   +2 more
doaj   +2 more sources