Trial reportJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2019
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.
Trial report in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- Melorheostosis: A Clinical, Pathologic, and Radiologic Case Series.The American journal of surgical pathology · 2019Trial
- Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Trial
- Calvarial melorheostosis: an extremely rare case and diagnostic challenge.Skeletal radiology · 2025Article
- Developing a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis dataset.Orphanet journal of rare diseases · 2025Article
- Melorheostosis: Two Case Reports and Review of Current Literature.Journal of orthopaedic case reports · 2025Article
- Unraveling melorheostosis: insights into clinical features, diagnosis, and treatment.JBMR plus · 2025Review
- [Biomolecules · 2024Review
- Bone Material Properties in Bone Diseases Affecting Children.Current osteoporosis reports · 2023Review
- VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case.Molecular genetics & genomic medicine · 2022Article
- Fibroblasts from Patients with Melorheostosis Promote Angiogenesis in Healthy Endothelial Cells through Secreted Factors.The Journal of investigative dermatology · 2022Article
- Review
- Cross-Sectional Imaging Useful in Melorheostosis.JBMR plus · 2021Article
- Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis.The Journal of investigative dermatology · 2021Observational
- Influence of the TGF-β Superfamily on Osteoclasts/Osteoblasts Balance in Physiological and Pathological Bone Conditions.International journal of molecular sciences · 2020Review
- Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.The Journal of experimental medicine · 2020Article
- Article
- Response to: letter to the editor re: Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT.Skeletal radiology · 2020Article
- Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study.JBMR plus · 2019Article
- CT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis.Bone · 2018Article
Corrections and comments
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Authors and funding
20 authors at 9 institutions in 3 countries.
Funding
Abstract
Melorheostosis is a rare hyperostotic disease of the long bones classically characterized by a "dripping candle-wax" radiographic appearance. We recently described somatic activating mutations in MAP2K1 as a cause of melorheostosis. Here, we report distinguishing characteristics of patients with MAP2K1-positive melorheostosis. Fifteen unrelated patients with radiographic appearance of melorheostosis underwent paired biopsies of affected and unaffected bone for whole-exome sequencing, histology, and cell culture. Eight patients with mutations in MAP2K1 in affected bone were compared to the seven MAP2K1-negative patients to identify distinguishing characteristics. Patients with MAP2K1-positive melorheostosis had a distinct phenotype with classic "dripping candle-wax" appearance on radiographs (p = 0.01), characteristic vascular lesions on skin overlying affected bone (p = 0.01), and higher prevalence of extraosseous mineralization and joint involvement (p = 0.04 for both). Melorheostotic bone from both MAP2K1-positive and MAP2K1-negative patients showed two zones of distinct morphology-an outer segment of parallel layers of primary lamellar bone and a deeper zone of intensely remodeled highly porous osteonal-like bone. Affected bone from MAP2K1-positive patients showed excessive osteoid (p = 0.0012), increased number of osteoblasts (p = 0.012) and osteoclasts (p = 0.04), and increased vascularity on histology in comparison to paired unaffected bone which was not seen in affected bone in most MAP2K1-negative patients. The identification of a distinct phenotype of patients with MAP2K1-positive melorheostosis demonstrates clinical and genetic heterogeneity among patients with the disease. Further studies are needed to better understand the underlying pathophysiology and associated skin findings. © 2018 American Society for Bone and Mineral Research.
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