MCID: MLR003
MIFTS: 47

Melorheostosis

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melorheostosis

MalaCards integrated aliases for Melorheostosis:

Name: Melorheostosis 12 53 25 29 55 44 15 73
Melorheostosis, Isolated 25
Hyperostosis, Monomelic 25
Melorheostosis of Leri 25
Periostitis; Monomelic 25
Flowing Hyperostosis 25
Candle Wax Disease 25
Leri's Disease 25
Melorheostoses 25
Leri Syndrome 25
Rheostosis 25

Classifications:



Summaries for Melorheostosis

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 TGF-beta Signaling Pathway (WikiPathways) and Senescence and Autophagy in Cancer. Affiliated tissues include bone, cortex and skin, and related phenotypes are failure to thrive and arthritis

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...

Related Diseases for Melorheostosis

Graphical network of the top 20 diseases related to Melorheostosis:



Diseases related to Melorheostosis

Symptoms & Phenotypes for Melorheostosis

Human phenotypes related to Melorheostosis:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 hallmark (90%) HP:0001508
2 arthritis 32 occasional (7.5%) HP:0001369
3 skeletal dysplasia 32 hallmark (90%) HP:0002652
4 joint stiffness 32 hallmark (90%) HP:0001387
5 cranial nerve paralysis 32 hallmark (90%) HP:0006824
6 arthralgia 32 hallmark (90%) HP:0002829
7 skeletal muscle atrophy 32 hallmark (90%) HP:0003202
8 lymphedema 32 hallmark (90%) HP:0001004
9 atypical scarring of skin 32 occasional (7.5%) HP:0000987
10 bone pain 32 hallmark (90%) HP:0002653
11 hyperostosis 32 hallmark (90%) HP:0100774
12 increased bone mineral density 32 hallmark (90%) HP:0011001
13 ectopic ossification in muscle tissue 32 hallmark (90%) HP:0011987
14 lower limb asymmetry 32 frequent (33%) HP:0100559
15 peripheral arteriovenous fistula 32 occasional (7.5%) HP:0100784
16 upper limb asymmetry 32 frequent (33%) HP:0100560

MGI Mouse Phenotypes related to Melorheostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 MAP2K1 POSTN SMAD2 SPARC
2 neoplasm MP:0002006 9.26 MAP2K1 POSTN SMAD2 SPARC
3 skeleton MP:0005390 9.02 BMP6 MAP2K1 POSTN SMAD2 SPARC

Drugs & Therapeutics for Melorheostosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease Recruiting NCT02504879

Search NIH Clinical Center for Melorheostosis

Cochrane evidence based reviews: melorheostosis

Genetic Tests for Melorheostosis

Genetic tests related to Melorheostosis:

# Genetic test Affiliating Genes
1 Melorheostosis 29

Anatomical Context for Melorheostosis

MalaCards organs/tissues related to Melorheostosis:

41
Bone, Cortex, Skin, Skeletal Muscle, Spinal Cord

Publications for Melorheostosis

Articles related to Melorheostosis:

(show top 50) (show all 236)
# Title Authors Year
1
Somatic activating mutations in MAP2K1 cause melorheostosis. ( 29643386 )
2018
2
Melorheostosis of a rib. ( 29997717 )
2018
3
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations. ( 30138550 )
2018
4
CT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis. ( 30218789 )
2018
5
Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report. ( 30257703 )
2018
6
Melorheostosis with recurrent soft-tissue components: a histologically confirmed case. ( 28062900 )
2017
7
18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement. ( 28319505 )
2017
8
Clinical Images: Arthritis in melorheostosis-an uncommon feature in a rare disease. ( 29108116 )
2017
9
A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder. ( 29234550 )
2017
10
Melorheostosis: a Rare Sclerosing Bone Dysplasia. ( 28676968 )
2017
11
Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report. ( 29242791 )
2017
12
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. ( 28434888 )
2017
13
Melorheostosis-Foot and ankle perspective. ( 28544914 )
2017
14
Pelvic Pain Due to Ischial Tuberosity and Acetabular Melorheostosis-Multimodal Image Presentation. ( 26968610 )
2016
15
Poster 442 Intractable Pelvic Pain Due to Melorheostosis Managed with Spinal Cord Stimulation: A Case Report. ( 27673191 )
2016
16
Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT. ( 27252746 )
2016
17
Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. ( 27485676 )
2016
18
Melorheostosis of the Foot: A Case Report of A rare entity with a Review of Multimodality Imaging Emphasizing the Importance of Conventional Radiography in Diagnosis. ( 27299136 )
2016
19
Melorheostosis of the spine and ribs. ( 25912499 )
2015
20
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty: A Case Report. ( 29252695 )
2015
21
Incidentally diagnosed melorheostosis of upper limb: case report. ( 25637225 )
2015
22
Melorheostosis involving the hand. ( 25708729 )
2015
23
Melorheostosis. ( 25798011 )
2015
24
Arthroscopic findings in melorheostosis. ( 25807097 )
2015
25
Melorheostosis: segmental osteopoikilosis or a separate entity? ( 25575356 )
2015
26
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty. ( 29252609 )
2015
27
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
28
Melorheostosis - Case Report of Rare Disease. ( 27298954 )
2014
29
Extensive melorheostosis of the ribs demonstrated on (18)F-Fluoride PET/CT. ( 25367750 )
2014
30
Melorheostosis: a rare entity: a case report. ( 25489356 )
2014
31
Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome. ( 24763843 )
2014
32
Melorheostosis: Two atypical cases. ( 25024532 )
2014
33
Melorheostosis mimicking synovial osteochondromatosis. ( 25971832 )
2014
34
Melorheostosis and central giant cell granuloma of the mandible in a 15-year-old girl. ( 24119529 )
2013
35
Severe valgus deformity of the knee with permanent patellar dislocation associated with melorheostosis: A case report and review of the literature. ( 23306029 )
2013
36
Melorheostosis and a review of the literature in China. ( 25343102 )
2013
37
Melorheostosis associated with bilateral aneurysms of the intrarenal arteries. ( 23890790 )
2013
38
Melorheostosis causing lumbar radiculopathy: a case report and a review of the literature. ( 23541445 )
2013
39
Successful treatment of pain in melorheostosis with zoledronate, with improvement on bone scintigraphy. ( 23813581 )
2013
40
Successful Treatment of the Pain Associated With Melorheostosis With Spinal Cord Stimulation: A Case Study. ( 23663163 )
2013
41
Appearance of osteolysis with melorheostosis: redefining the disease or a new disorder? A novel case report with multimodality imaging. ( 23680113 )
2013
42
Knee melorheostosis treated by drilling fenestration: a case report. ( 22615160 )
2012
43
Case report: Emergency department diagnosis of melorheostosis in the upper extremity: a rare disease with an unusual presentation. ( 20576391 )
2012
44
Surgical treatment of melorheostosis: report of two cases. ( 22531309 )
2012
45
Three cases of melorheostosis with foot and ankle involvement. ( 22900256 )
2012
46
Bone scintigraphy elucidates different metabolic stages of melorheostosis. ( 22514755 )
2012
47
Unilateral nevoid telangiectasia associated with ipsilateral melorheostosis. ( 22577274 )
2012
48
Melorheostosis in the hand and forearm. ( 21849883 )
2012
49
Melorheostosis associated with peripheral form spondyloarthropathy: new image with 18-fluoride positron emission tomoscintigraphy coupled to computed tomography. ( 27790007 )
2012
50
Detection of extensive melorheostosis on bone scintigram performed for suspected metastases. ( 21285690 )
2011

Variations for Melorheostosis

Expression for Melorheostosis

Search GEO for disease gene expression data for Melorheostosis.

Pathways for Melorheostosis

GO Terms for Melorheostosis

Biological processes related to Melorheostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.4 SMAD2 SPARC
2 ossification GO:0001503 9.37 BMP6 SPARC
3 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.32 LEMD3 SMAD2
4 response to glucocorticoid GO:0051384 9.26 BMP6 SPARC
5 SMAD protein signal transduction GO:0060395 9.16 BMP6 SMAD2
6 heart development GO:0007507 9.13 MAP2K1 SMAD2 SPARC
7 wound healing GO:0042060 8.8 POSTN SMAD2 SPARC

Molecular functions related to Melorheostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 8.62 BMP6 SMAD2

Sources for Melorheostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....