Case Report: Severe Melorheostosis Involving the Ipsilateral Extremities

Long, Haitao; Li, Kanghua; Zhu, Yong

doi:10.1007/s11999-009-0890-y

Cited by 22 publications

(20 citation statements)

References 13 publications

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“…Melorheostosis is a rare disorder of unknown cause characterized by dense sclerotic bone that occurs in a sclerotomal distribution. Leri [1] first described melorheostosis in 1922 as “a deformation of the fingers characterized by a slight spacing of the extremities of the index and medius of the left hand” in a 39‐year‐old woman [1‐5].…”

Section: Introductionmentioning

confidence: 99%

Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic

Smith

Pingree

Freeman

et al. 2016

PM&R

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Section: Introductionmentioning

confidence: 99%

Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic

Smith

Pingree

Freeman

et al. 2016

PM&R

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“…Many ideas about the cause of melorheostosis reflect its limited segmental distribution although more extensive disease is also well described [25]. Sometimes the disease appears to jump anatomical segments.…”

Section: Aetiology and Molecular Pathogenesismentioning

confidence: 99%

Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis

Wordsworth

Chan

2019

Calcif Tissue Int

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Melorheostosis is an exceptionally rare sclerosing hyperostosis that typically affects the appendicular skeleton in a limited segmental fashion. It occasionally occurs on a background of another benign generalised sclerosing bone condition, known as osteopoikilosis caused by germline mutations in LEMD3, encoding the inner nuclear membrane protein MAN1, which modulates TGFβ/bone morphogenetic protein signalling. Recent studies of melorheostosis lesional tissue indicate that most cases arise from somatic MAP2K1 mutations although a small number may arise from other genes in related pathways, such as KRAS. Those cases associated with MAP2K1 mutations are more likely to have the classic "dripping candle wax" appearance on radiographs. The relationship between these somatic mutations and those found in a variety of malignant conditions is discussed. There are also similar germline mutations involved in a group of genetic disorders known as the RASopathies (including Noonan syndrome, Costello syndrome and various cardiofaciocutaneous syndromes), successful treatments for which could be applied to melorheostosis. The diagnosis and management of melorheostosis are discussed; there are 4 distinct radiographic patterns of melorheostosis and substantial overlap with mixed sclerosing bone dysplasia. Medical treatments include bisphosphonates, but definitive guidance on their use is lacking given the small number of patients that have been studied. Surgical intervention may be required for those with large bone growths, nerve entrapments, joint impingement syndromes or major limb deformities. Bone regrowth is uncommon after surgery, but recurrent contractures represent a major issue in those with extensive associated soft tissue involvement.

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“…Most common presentation is pain & most common involved bone part is diaphysis of long bones with rare involvement of axial skeleton [3] . Diagnosis is obtained by combining the clinical and radiological findings (flowing hyperostosis/ candle wax appearance) [4] . There is no definitive treatment, it always palliative.…”

Section: Introductionmentioning

confidence: 99%

Melorheostosis: Case report of rare disease

Mehrotra¹,

Kumar²,

Chaudhary³

et al. 2018

Int. J. Orthop. Sci.

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Introduction: Melorheostosis is a rare chronic bone disease, characterized by linear hyperostosis along the bone cortex. First case described in 1922 by Leri and Joanny. It can affect any bone, being more frequent in long bones. The etiology remains unknown although several theories have been proposed. Men and women are equally affected, and no hereditary features have been discovered. Onset is insidious, and mostjj common symptoms are pain, deformity and joint stiffness. The diagnosis is obtained by combining the clinical and radiological findings (mainly radiography with typical image in "candle wax"). There is no definitive or specific treatment, being always palliative. Case report: We describe a case of a 35-year-old woman presented with a history of left forearm dull and aching pain with mild swelling. There was no relevant family history or trauma. Physical examination revealed a firm non-tender swelling over distal half of the left forearm. The pathology report described nonspecific, dense cortical bone with mature and immature bone tissues. X-rays showed hyperostosis of the radius of the right forearm (image in "candle wax"). The patient is in physical therapy program and has a positive response to analgesics and intravenous bisphosphonate zolendronic acid. Conclusion:The exact etiology remains unclear. There is no definite treatment available for this rare disease. Only symptomatic treatment improve the condition of the patients, quit well result obtain with zolendronic acid and physiotherapy.

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Case Report: Severe Melorheostosis Involving the Ipsilateral Extremities

Cited by 22 publications

References 13 publications

Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic

Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic

Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis

Melorheostosis: Case report of rare disease

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