melorheostosis
Sign in to saveAlso known as Mel, MELORHEOSTOSIS, ISOLATED
Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. The condition ends in childhood and is characterized by thickening of the bones. Pain is a frequent symptom and the bone can have the appearance of dripping candle wax.
Research
540 papers- Melorheostosis: A Review of the Literature and a Case Report.Medicina (Kaunas, Lithuania) · 2023
- Melorheostosis.American journal of orthopedics (Belle Mead, N.J.) · 1997
- Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.Calcified tissue international · 2019
- Melorheostosis: a Rare Sclerosing Bone Dysplasia.Current osteoporosis reports · 2017
- [Melorheostosis].Medicina · 2023
via PubMed
Wikidata facts
- Subclass of
- genetic disease
Show 6 more facts
- NCI Thesaurus ID
- C84887
- exact match
- www.orpha.net/ORDO/Orphanet_2485
- health specialty
- rheumatology
- ICD-9-CM
- 756.89
- has phenotype
- osteosclerosis
- on focus list of Wikimedia project
- WikiProject Medicine
via Wikidata · CC0
~2 min read
Encyclopedic overview
6 sectionsContents
- Cause
- Diagnosis
- Treatment
- See also
- References
- External links
Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. The condition ends in childhood and is characterized by thickening of the bones. Pain is a frequent symptom and the bone can have the appearance of dripping candle wax.
==Cause== A randomly occurring somatic mutation of the MAP2K1 gene during fetal development is believed to be the cause. It is not known if LEMD3 mutations can cause isolated melorheostosis in the absence of osteopoikilosis or Buschke–Ollendorff syndrome.
Excerpted from Wikipedia’s “melorheostosis” article, available under the CC BY-SA 4.0 licence.