melorheostosis

A randomly occurring somatic mutation of the MAP2K1 gene during fetal development is believed to be the cause."[https://rarediseases.info.nih.gov/diseases/9474/melorheostosis Melorheostosis | Genetic and Rare Diseases Information Center (GARD)] – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-01-22.{{cite journal | vauthors = Kang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A, Meylan F, Hanson EP, Lange E, Katz J, Roschger P, Klaushofer K, Cowen EW, Siegel RM, Marini JC, Bhattacharyya T | title = Somatic activating mutations in MAP2K1 cause melorheostosis | journal = Nature Communications | volume = 9 | issue = 1 | pages = 1390 | date = April 2018 | pmid = 29643386 | pmc = 5895796 | doi = 10.1038/s41467-018-03720-z | bibcode = 2018NatCo...9.1390K }} It is not known if LEMD3 mutations can cause isolated melorheostosis in the absence of osteopoikilosis or Buschke–Ollendorff syndrome.{{cite journal | vauthors = Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP | title = Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis | journal = Clinical Genetics | volume = 75 | issue = 6 | pages = 556–61 | date = June 2009 | pmid = 19438932 | doi = 10.1111/j.1399-0004.2009.01177.x | s2cid = 5201411 }}

Melorheostosis is a mesenchymal dysplasia manifesting as regions of dripping wax appearance or flowing candle wax appearance.{{cite web|url=http://radiopaedia.org/articles/melorheostosis-1|title=Melorheostosis - Radiology Reference Article - Radiopaedia.org|first=Hani|last=Salam|website=Radiopaedia.org|access-date=9 July 2018}} The disorder can be detected by radiograph due to thickening of bony cortex resembling "dripping candle wax." It is included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis.{{cite web|url=http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf|title=Melorheostosis - Orpha.net|vauthors=Azouz ME, Greenspan A|access-date=2010-07-28|archive-date=2016-08-16|archive-url=https://web.archive.org/web/20160816180722/https://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf|url-status=dead}} The disorder tends to be unilateral and monostotic (i.e. affecting a single bone), with only one limb typically involved. Cases with involvement of multiple limbs, ribs, and bones in the spine have also been reported. There are no reported cases of involvement of skull or facial bones. Melorheostosis can be associated with pain, physical deformity, skin and circulation problems, contractures, and functional limitation. It is also associated with a benign inner ear dysplasia known as osteosclerosis.{{cite journal | vauthors = Subhas N, Sundaram M, Bauer TW, Seitz WH, Recht MP | title = Glenoid labrum ossification and mechanical restriction of joint motion: extraosseous manifestations of melorheostosis | journal = Skeletal Radiology | volume = 37 | issue = 2 | pages = 177–81 | date = February 2008 | pmid = 18030463 | doi = 10.1007/s00256-007-0405-4 | s2cid = 22628990 }}

The disorder is progressive, with the ultimate severity of symptoms often depending on age of onset. In severe cases amputation has been performed when conservative measures such as physical therapy and regional anesthetics have been ineffective.{{cite journal | vauthors = Graham LE, Parke RC | title = Melorheostosis--an unusual cause of amputation | journal = Prosthetics and Orthotics International | volume = 29 | issue = 1 | pages = 83–6 | date = April 2005 | pmid = 16180380 | doi = 10.1080/17461550500066808 | s2cid = 21308725 }}

• List of radiographic findings associated with cutaneous conditions

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{{Medical resources

| DiseasesDB = 29229

| ICD10 = {{ICD10|M|85|8|m|80}}

| ICD9 = {{ICD9|733.99}}

| ICDO =

| OMIM = 155950

| MedlinePlus =

| eMedicineSubj =

| eMedicineTopic =

| MeshID = D008557

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{{Osteochondropathy}}

Category:Genetic disorders with OMIM but no gene

Category:Musculoskeletal disorders

Category:Rare diseases