Melorheostosis

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Disease Ontology 12 DOID:4253 MeSH 44 D008557 NCIt 50 C84887

SNOMED-CT 68 240173003 44697002 SNOMED-CT via HPO 69 234097001 30213001 3723001 84445001 36440009 432788009 105985007 240190009 12584003 57676002 74035001 73013002 49347007 45939007 13814009 203514008 more UMLS 73 C0025239

NIH Rare Diseases : ⁵³ Melorheostosis is a rare skeletal abnormality that causes abnormal growth of new bone tissue on top of existing bones. Signs and symptoms typically appear by late childhood or adolescence. Signs and symptoms may include deformity, contracture, chronic pain, stiffness, and limited range of motion. In some cases, the overlying skin and soft tissue may show thickening, shininess, reddening or darkening, linear scleroderma, and/or swelling. The condition typically affects the long bones, and the legs are affected more often than the arms. Sometimes the small bones of the hand or foot are affected, and rarely, bones of the skull or trunk are affected. The condition is sometimes associated with other bone or connective tissue abnormalities. The diagnosis is based on a combination of clinical and radiological features, which are used to distinguish melorheostosis from other bone disorders. Isolated melorheostosis (with no other associated disorders) is typically sporadic, occurring in people with no family history of the condition. Around half of cases of isolated melorheostosis are due to acquired, somatic mutations in the MAP2K1 gene; these mutations are not inherited from a parent and occur randomly during a person's lifetime. In the remainder of cases, the cause is not yet known. Somatic mutations in other, unidentified genes may also cause the disorder. Some people with melorheostosis associated with other bone disorders (specifically osteopoikilosis and Buschke–Ollendorff syndrome) have heritable mutations in the LEMD3 gene, but mutations in this gene are not thought to be responsible for isolated melorheostosis. Management depends on the severity and symptoms in each person and aims to relieve pain, correct deformity, and restore movement. Management options may include medications, physical therapy, occupational therapy, and/or orthopedic surgery. Melorheostosis is not life-threatening, but chronic pain can greatly impact quality of life.

MalaCards based summary : Melorheostosis, also known as melorheostosis, isolated, is related to buschke-ollendorff syndrome and osteopoikilosis. An important gene associated with Melorheostosis is LEMD3 (LEM Domain Containing 3), and among its related pathways/superpathways are Immune response IFN gamma signaling pathway and TGF-beta signaling pathway (KEGG). Affiliated tissues include bone, cortex and skin, and related phenotypes are atypical scarring of skin and lymphedema

Disease Ontology : ¹² An osteosclerosis that has material basis in a mutation of the LEMD3 gene which results in a hyperdense bony cortex.

Genetics Home Reference : ²⁵ Melorheostosis is a rare bone disease. It causes the abnormal growth of new bone tissue on the surface of existing bones. The new bone has a characteristic appearance on x-rays, often described as "flowing" or like dripping candle wax. The excess bone growth typically occurs on the bones in one arm or leg, although it can also affect the pelvis, breastbone (sternum), ribs, or other bones. (The term "melorheostosis" is derived from the Greek words "melos," which means limb; "rheos," which means flow; and "ostosis," which refers to bone formation.) The abnormal bone growth associated with melorheostosis is noncancerous (benign), and it does not spread from one bone to another.

Wikipedia : ⁷⁶ Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex... more...

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Search GEO for disease gene expression data for Melorheostosis.