{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T18:42:02Z","timestamp":1788633722701,"version":"build-2803163510"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T00:00:00Z","timestamp":1564099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JBMR Plus"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>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. It has been described in children as well as adults. We recently identified somatic mosaicism for gain\u2010of\u2010function mutations in <jats:italic>MAP2K1<\/jats:italic> in patients with melorheostosis. Despite these advances in genetic understanding, there are no effective therapies or clinical guidelines to help clinicians and patients in disease management. In a study to better characterize the clinical and genetic aspects of the disease, we recruited 30 adults with a radiographic appearance of melorheostosis and corresponding increased uptake on <jats:sup>18<\/jats:sup>F\u2010NaF positron emission tomography (PET)\/CT. Patients underwent physical exam, imaging studies, and laboratory assessment. All patients underwent nerve conduction studies and ultrasound imaging of the nerve in the anatomic distribution of melorheostosis. We found sensory deficits in approximately 77% of patients, with evidence of focal nerve entrapment in five patients. All patients reported pain; 53% of patients had changes in skin overlying the affected bone. No significant laboratory abnormalities were noted. Our findings suggest that patients with melorheostosis may benefit from a multidisciplinary team of dermatologists, neurologists, orthopedic surgeons, pain and palliative care specialists, and physical medicine and rehabilitation specialists. Future studies focused on disease management are needed. \u00a9 2019 The Authors. <jats:italic>JBMR Plus<\/jats:italic> Published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.<\/jats:p>","DOI":"10.1002\/jbm4.10214","type":"journal-article","created":{"date-parts":[[2019,6,27]],"date-time":"2019-06-27T16:08:57Z","timestamp":1561651737000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study"],"prefix":"10.1093","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9201-3340","authenticated-orcid":false,"given":"Smita","family":"Jha","sequence":"first","affiliation":[{"name":"Clinical and Investigative Orthopedics Surgery Unit National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH  Bethesda MD USA"},{"name":"Section on Congenital Disorders NIH Clinical Center  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward W","family":"Cowen","sequence":"additional","affiliation":[{"name":"Dermatology Branch National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya J","family":"Lehky","sequence":"additional","affiliation":[{"name":"EMG Section, National Institutes of Neurological Disorders and Stroke (NINDS), NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharine","family":"Alter","sequence":"additional","affiliation":[{"name":"Functional and Applied Biomechanics Section Rehabilitation Medicine Department, NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Flynn","sequence":"additional","affiliation":[{"name":"National Institutes of Neurological Disorders and Stroke (NINDS), NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C","family":"Reynolds","sequence":"additional","affiliation":[{"name":"Nuclear Medicine Division Radiology and Imaging Sciences, NIH Clinical Center  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen","family":"Lange","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James D","family":"Katz","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan C","family":"Marini","sequence":"additional","affiliation":[{"name":"Section on Heritable Disorders of Bone and Extracellular Matrix National Institute of Child Health and Human Development, NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard M","family":"Siegel","sequence":"additional","affiliation":[{"name":"Immunoregulation Section, Autoimmunity Branch National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Bhattacharyya","sequence":"additional","affiliation":[{"name":"Clinical and Investigative Orthopedics Surgery Unit National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,7,26]]},"reference":[{"key":"e_1_2_7_1_2_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.67B1.3155744"},{"key":"e_1_2_7_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-019-00543-y"},{"key":"e_1_2_7_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1453"},{"key":"e_1_2_7_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9403"},{"key":"e_1_2_7_1_6_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.061102"},{"key":"e_1_2_7_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2017.04.010"},{"key":"e_1_2_7_1_8_1","unstructured":"SeidelV Guille'nE Martinez\u2010GlezVM et al. editors. 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