Melorheostosis and its treatment with intravenous zoledronic acid

Hollick, Rosemary Jane; Black, Alison; Reid, David M.

doi:10.1136/bcr.04.2009.1757

Cited by 13 publications

(13 citation statements)

References 16 publications

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“…Bisphosphonates inhibit osteoclastic bone resorption by a number of mechanisms on bone vascularity or cells such as osteoblasts and macrophages. Their effects on reducing bone pain and deceleration of bone lesions have been shown [6,13,14].…”

Section: Case Reportmentioning

confidence: 99%

Leri Disease – case report of uncommon disease

Igielska-Bela¹,

Krzemiński²

2019

Chir. Narzadow Ruchu Ortop. Pol.

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Introduction. Leri disease (synonyms: melorheostosis, candle bone disease, melting wax syndrome) is a rare disease which affect bones, first described in 1922 by Leri and Joanny. The disease can be asymptomatic or manifested by severe pain of the limbs. A radiological feature is the increasing density of the bone structure resembling wax flowing from a candle. Case report. A 27-year-old Caucasian female presented with pain of her upper limb, a deformation of the limb and with a limitation of the active and passive range of motion of the joints. The x-rays showed irregular cortical sclerosis resembling wax that has dripped down the side of the candle. The analgetics were given to the patient. The patient has also underwent a surgical treatment. Conclusions. The Leri disease is diagnosed based on the typical candle wax x-ray changes. There is no causative treatment. The treatment with bisphosphonates and physiotherapy can bring results. The surgical treatment does not help in relieving pain.

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Section: Case Reportmentioning

confidence: 99%

Leri Disease – case report of uncommon disease

Igielska-Bela¹,

Krzemiński²

2019

Chir. Narzadow Ruchu Ortop. Pol.

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“…As such, upon classic presentation of the disease, diagnosis can be made by X-ray studies followed by increased uptake of radionuclide [41, 45]. The diagnosis can be confirmed by MRI and CT by detecting hyperostosis.…”

Section: Melorheostosismentioning

confidence: 99%

Molecular, Phenotypic Aspects and Therapeutic Horizons of Rare Genetic Bone Disorders

Faruqi

Dhawan

Bahl

et al. 2014

BioMed Research International

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A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.

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“…More than 400 publications have described melorheostosis to date, with the diagnosis based exclusively on the presence of the characteristic dense and eccentric hyperostosis or cortical thickening of the affected bone without any features of bony destruction. Therapeutic management is limited to symptomatic management of skeletal pain because there is no cure . A few reports of clinical improvement after zoledronate treatment suggest that increased osteoclastic resorption and/or angiogenesis might be involved in the pathogenesis of the disease .…”

Section: Introductionmentioning

confidence: 99%

“…Therapeutic management is limited to symptomatic management of skeletal pain because there is no cure . A few reports of clinical improvement after zoledronate treatment suggest that increased osteoclastic resorption and/or angiogenesis might be involved in the pathogenesis of the disease . Beyond this, the etiology of the exuberant melorheostotic bone overgrowth is yet to be elucidated.…”

Section: Introductionmentioning

confidence: 99%

“…(4,6,7) A few reports of clinical improvement after zoledronate treatment suggest that increased osteoclastic resorption and/or angiogenesis might be involved in the pathogenesis of the disease. (3,7,8) Beyond this, the etiology of the exuberant melorheostotic bone overgrowth is yet to be elucidated. Becasue the abnormal tissue has not been well characterized, it is not yet clear which pathways could be targeted to improve the clinical condition of affected patients.…”

Section: Introductionmentioning

confidence: 99%

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Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction

Fratzl‐Zelman

Roschger

Kang

et al. 2019

Journal of Bone and Mineral Research

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Melorheostosis is a rare non‐hereditary condition characterized by dense hyperostotic lesions with radiographic “dripping candle wax” appearance. Somatic activating mutations in MAP2K1 have recently been identified as a cause of melorheostosis. However, little is known about the development, composition, structure, and mechanical properties of the bone lesions. We performed a multi‐method phenotype characterization of material properties in affected and unaffected bone biopsy samples from six melorheostosis patients with MAP2K1 mutations. On standard histology, lesions show a zone with intensively remodeled osteonal‐like structure and prominent osteoid accumulation, covered by a shell formed through bone apposition, consisting of compact multi‐layered lamellae oriented parallel to the periosteal surface and devoid of osteoid. Compared with unaffected bone, melorheostotic bone has lower average mineralization density measured by quantitative backscattered electron imaging (CaMean: –4.5%, p = 0.04). The lamellar portion of the lesion is even less mineralized, possibly because the newly deposited material has younger tissue age. Affected bone has higher porosity by micro‐CT, due to increased tissue vascularity and elevated 2D‐microporosity (osteocyte lacunar porosity: +39%, p = 0.01) determined on quantitative backscattered electron images. Furthermore, nano‐indentation modulus characterizing material hardness and stiffness was strictly dependent on tissue mineralization (correlation with typical calcium concentration, CaPeak: r = 0.8984, p = 0.0150, and r = 0.9788, p = 0.0007, respectively) in both affected and unaffected bone, indicating that the surgical hardness of melorheostotic lesions results from their lamellar structure. The results suggest a model for pathophysiology of melorheostosis caused by somatic activating mutations in MAP2K1, in which the genetically induced gradual deterioration of bone microarchitecture triggers a periosteal reaction, similar to the process found to occur after bone infection or local trauma, and leads to an overall cortical outgrowth. The micromechanical properties of the lesions reflect their structural heterogeneity and correlate with local variations in mineral content, tissue age, and remodeling rates, in the same way as normal bone. © 2018 American Society for Bone and Mineral Research

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Melorheostosis and its treatment with intravenous zoledronic acid

Cited by 13 publications

References 16 publications

Leri Disease – case report of uncommon disease

Leri Disease – case report of uncommon disease

Molecular, Phenotypic Aspects and Therapeutic Horizons of Rare Genetic Bone Disorders

Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction

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