Unraveling Melorheostosis: Insights into Clinical Features, Diagnosis, and Treatment
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Abstract
Melorheostosis is a rare bone disease characterized by abundant bone formation with a characteristic radiographic appearance that resembles "dripping candle wax." Recent data have shown that the majority of cases are due to somatic activating mutations in bone. Melorheostosis has several clinical and radiographic presentations, which are now known to be caused by different somatic mutations such as , , , and . This review provides a comprehensive look at the clinical features, diagnostic approaches, and current treatment options for melorheostosis, alongside future research directions aimed at improving patient outcomes.
References
1.
Jha S, Fratzl-Zelman N, Roschger P, Papadakis G, Cowen E, Kang H
. Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations. J Bone Miner Res. 2018; 34(1):145-156.
PMC: 7577747.
DOI: 10.1002/jbmr.3577.
View
2.
Fryns J
. Melorheostosis and somatic mosaicism. Am J Med Genet. 1995; 58(2):199.
DOI: 10.1002/ajmg.1320580221.
View
3.
Mumm S, Wenkert D, Zhang X, McAlister W, Mier R, Whyte M
. Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. J Bone Miner Res. 2006; 22(2):243-50.
DOI: 10.1359/jbmr.061102.
View
4.
Hurley-Novatny A, Allbritton-King J, Jha S, Cowen E, Colbert R, Navid F
. Fibroblasts from Patients with Melorheostosis Promote Angiogenesis in Healthy Endothelial Cells through Secreted Factors. J Invest Dermatol. 2022; 142(9):2406-2414.e5.
PMC: 9388700.
DOI: 10.1016/j.jid.2022.02.006.
View
5.
Cosman F, Crittenden D, Adachi J, Binkley N, Czerwinski E, Ferrari S
. Romosozumab Treatment in Postmenopausal Women with Osteoporosis. N Engl J Med. 2016; 375(16):1532-1543.
DOI: 10.1056/NEJMoa1607948.
View