Abstract

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‐of‐function mutations in MAP2K1 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 18F‐NaF 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. © 2019 The Authors. JBMR Plus Published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.

Details

Title
Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study
Author
Jha, Smita 1   VIAFID ORCID Logo  ; Cowen, Edward W 2 ; Lehky, Tanya J 3 ; Alter, Katharine 4 ; Flynn, Lauren 5 ; Reynolds, James C 6 ; Lange, Eileen 7 ; Katz, James D 7 ; Marini, Joan C 8 ; Siegel, Richard M 9 ; Bhattacharyya, Timothy 10 

1  Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA; Section on Congenital Disorders, NIH Clinical Center, Bethesda, MD, USA 
2  Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA 
3  EMG Section, National Institutes of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD, USA 
4  Functional and Applied Biomechanics Section, Rehabilitation Medicine Department, NIH, Bethesda, MD, USA 
5  National Institutes of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD, USA 
6  Nuclear Medicine Division, Radiology and Imaging Sciences, NIH Clinical Center, Bethesda, MD, USA 
7  Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA 
8  Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA 
9  Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA 
10  Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA 
Section
Special Issue
Publication year
2019
Publication date
Aug 2019
Publisher
Oxford University Press
e-ISSN
24734039
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2282298176
Copyright
© 2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.