Melorheostosis

External Ids:

Disease Ontology 12 DOID:4253 MeSH 43 D008557 {http NCIt 49 C84887

SNOMED-CT 67 44697002 SNOMED-CT via HPO 68 105985007 12584003 13814009 203514008 234097001 240190009 30213001 36440009 3723001 432788009 45939007 49347007 57676002 73013002 74035001 84445001 more UMLS 71 C0025239

NIH Rare Diseases : ⁵² 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 Proteoglycans in cancer and VEGF Signaling. Affiliated tissues include bone, skin and cortex, and related phenotypes are skeletal dysplasia and joint stiffness

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. The signs and symptoms of melorheostosis usually appear in childhood or adolescence. The condition can cause long-lasting (chronic) pain, permanent joint deformities (contractures), and a limited range of motion of the affected body part. In some people, the limb may appear thickened or enlarged, and the skin overlying the affected area can become red, thick, and shiny. Another rare disease, Buschke-Ollendorff syndrome, can include melorheostosis. Buschke-Ollendorff syndrome is characterized by skin growths called connective tissue nevi and areas of increased bone density called osteopoikilosis. A small percentage of affected individuals also have melorheostosis or other bone abnormalities. Scientists originally speculated that melorheostosis that occurs without the other features of Buschke-Ollendorff syndrome might have the same genetic cause as that syndrome. However, it has since been determined that Buschke-Ollendorff syndrome and melorheostosis that occurs alone are caused by mutations in different genes, and the two conditions are considered separate disorders.

Wikipedia : ⁷⁴ Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex... more...

Search NIH Clinical Center for Melorheostosis

Search GEO for disease gene expression data for Melorheostosis.