- Melorheostosis
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Melorheostosis Classification and external resources ICD-10 M85.8 ICD-9 733.99 OMIM 155950 DiseasesDB 29229 MeSH D008557 Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution.
Contents
Diagnosis
Melorheostosis is thought to be caused by a mutation of the LEMD3 gene. 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 osteopikolosis.[1] The disorder tends to be unilateral and monoostotic, 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.[2]
It is not known if LEMD3 mutations can cause isolated melorheostosis in the absence of Buschke-Ollendorff syndrome.[3]
Treatment
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.[4]
Melorheostosis in the media
Melorheostosis gained greater recognition in 2010 when Big Brother 12 contestant Matt Hoffman falsely claimed that his wife suffered from the condition in order to gain sympathy from his fellow house guests.[5]
References
- ^ Azouz ME Greenspan A. "Melorheostosis - Orpha.net". http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf.
- ^ Subhas N, Sundaram M, Bauer TW, Seitz WH, Recht MP (2008). "Glenoid labrum ossification and mechanical restriction of joint motion: extraosseous manifestations of melorheostosis". Skeletal Radiol. 37 (2): 177–81. doi:10.1007/s00256-007-0405-4. PMID 18030463.
- ^ Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP (June 2009). "Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis". Clin. Genet. 75 (6): 556–61. doi:10.1111/j.1399-0004.2009.01177.x. PMID 19438932. http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2009&volume=75&issue=6&spage=556.
- ^ Graham LE, Parke RC (2005). "Melorheostosis--an unusual cause of amputation". Prosthet Orthot Int 29 (1): 83–6. doi:10.1080/17461550500066808. PMID 16180380.
- ^ Andy Dehnart (July 23, 2010). "Matt’s melorheostosis lie upsets advocates, CBS okay airing things “we do not condone”". Reality Blurred. http://www.realityblurred.com/realitytv/archives/big_brother_12/2010_Jul_23_matt_melorheostosis_lie.
External links
Osteochondropathy (M80–M94, 730–733) Osteopathies endocrine bone disease: Osteitis fibrosa cystica (Brown tumor)infectious bone disease: Osteomyelitis (Sequestrum, Involucrum) · Sesamoiditis · Brodie abscess · PeriostitisBone density
and structureDensity / metabolic bone diseaseContinuity of boneOtherFibrous dysplasia (Monostotic, Polyostotic) · Skeletal fluorosis · bone cyst (Aneurysmal bone cyst) · Hyperostosis (Infantile cortical hyperostosis) · Osteosclerosis (Melorheostosis)OtherChondropathies OtherBoth lower limb: hip (Legg–Calvé–Perthes syndrome) · tibia (Osgood-Schlatter disease, Blount's disease) · foot (Köhler disease, Sever's disease)Categories:- Genetic disorders with OMIM but no gene
- Disease stubs
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