MEL
MCID: MLR023
MIFTS: 32

Melorheostosis, Isolated (MEL)

Categories: Bone diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melorheostosis, Isolated

MalaCards integrated aliases for Melorheostosis, Isolated:

Name: Melorheostosis, Isolated 58
Melorheostosis 60 76 74
Mel 58 76

Characteristics:

Orphanet epidemiological data:

60
melorheostosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
progressive disorder
onset in childhood
segmental distribution often affecting 1 limb


HPO:

33
melorheostosis, isolated:
Onset and clinical course progressive
Inheritance sporadic


Classifications:



External Ids:

OMIM 58 155950
MESH via Orphanet 46 D008557
ICD10 via Orphanet 35 M85.8
UMLS via Orphanet 75 C0025239
Orphanet 60 ORPHA2485
UMLS 74 C0025239

Summaries for Melorheostosis, Isolated

OMIM : 58 Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft tissue, including joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangiomas (review by Hellemans et al., 2004). The designation combines root words meaning 'limb,' 'flow,' and 'bone.' Melorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; 166700), a benign disorder which is caused by mutation in the LEMD3 gene (607844). Although germline or somatic LEMD3 mutations had been postulated to cause isolated melorheostosis (Butkus et al., 1997; Debeer et al., 2003; Happle, 2004; Hellemans et al., 2004), several studies have not been able to prove this (Hellemans et al., 2004; Mumm et al., 2007; Zhang et al., 2009). (155950)

MalaCards based summary : Melorheostosis, Isolated, also known as melorheostosis, is related to melorheostosis with osteopoikilosis and buschke-ollendorff syndrome. Affiliated tissues include bone, skin and cortex, and related phenotypes are hyperostosis and increased bone mineral density

UniProtKB/Swiss-Prot : 76 Melorheostosis: Rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur.

Related Diseases for Melorheostosis, Isolated

Diseases related to Melorheostosis, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 melorheostosis with osteopoikilosis 12.7
2 buschke-ollendorff syndrome 11.9
3 melorheostosis 11.6
4 osteopoikilosis 10.5
5 melanoma 10.4
6 astigmatism 10.3
7 sleeping sickness 10.3
8 systemic scleroderma 10.3
9 linear scleroderma 10.3
10 trypanosomiasis 10.2
11 myopia 10.2
12 influenza 10.2
13 carpal tunnel syndrome 10.1
14 mononeuropathy of the median nerve, mild 10.1
15 arthritis 10.1
16 hypertrichosis 10.1
17 neurofibroma 10.1
18 fibromatosis 10.1
19 spondylocarpotarsal synostosis syndrome 10.0
20 mucositis 10.0
21 presbyopia 10.0
22 endosteal hyperostosis, autosomal dominant 9.9
23 klippel-trenaunay-weber syndrome 9.9
24 rheumatoid arthritis 9.9
25 trichodentoosseous syndrome 9.9
26 human venous malformation 9.9
27 osteopetrosis 9.9
28 desmoid tumor 9.9
29 rickets 9.9
30 spondyloarthropathy 9.9
31 nephrotic syndrome 9.9
32 patulous eustachian tube 9.9
33 telangiectasis 9.9
34 renovascular hypertension 9.9
35 giant cell reparative granuloma 9.9
36 malignant fibroxanthoma 9.9
37 bone inflammation disease 9.9
38 histiocytoma 9.9
39 radiculopathy 9.9
40 fibrous histiocytoma 9.9
41 ischemic fasciitis 9.9
42 synovial chondromatosis 9.9
43 undifferentiated pleomorphic sarcoma 9.9
44 weber syndrome 9.9
45 angioosteohypertrophic syndrome 9.9
46 hepatocellular carcinoma 9.9
47 dna, satellite, iii 9.9
48 melanoma, uveal 9.9
49 papillomatosis, confluent and reticulated 9.9
50 pityriasis rubra pilaris 9.9

Graphical network of the top 20 diseases related to Melorheostosis, Isolated:



Diseases related to Melorheostosis, Isolated

Symptoms & Phenotypes for Melorheostosis, Isolated

Human phenotypes related to Melorheostosis, Isolated:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperostosis 60 33 Very frequent (99-80%) HP:0100774
2 increased bone mineral density 60 33 Very frequent (99-80%) HP:0011001
3 failure to thrive 60 Very frequent (99-80%)
4 arthritis 60 Occasional (29-5%)
5 skeletal dysplasia 60 Very frequent (99-80%)
6 joint stiffness 60 Very frequent (99-80%)
7 cranial nerve paralysis 60 Very frequent (99-80%)
8 arthralgia 60 Very frequent (99-80%)
9 skeletal muscle atrophy 60 Very frequent (99-80%)
10 lymphedema 60 Very frequent (99-80%)
11 atypical scarring of skin 60 Occasional (29-5%)
12 abnormality of the skeletal system 60 Very frequent (99-80%)
13 bone pain 60 Very frequent (99-80%)
14 ectopic ossification in muscle tissue 60 Very frequent (99-80%)
15 lower limb asymmetry 60 Frequent (79-30%)
16 peripheral arteriovenous fistula 60 Occasional (29-5%)
17 upper limb asymmetry 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
contractures over affected bones
flexion deformities over affected bones
melorheostosis
flowing hyperostosis of bone cortex
osteosclerosis (lesions mainly affect diaphyses of long bones, hands, feet, and pelvis although epiphyses may also be affected)

Skin Nails Hair Skin:
skin atrophy over affected bones
sclerotic soft tissue over affected bones

Clinical features from OMIM:

155950

Drugs & Therapeutics for Melorheostosis, Isolated

Search Clinical Trials , NIH Clinical Center for Melorheostosis, Isolated

Genetic Tests for Melorheostosis, Isolated

Anatomical Context for Melorheostosis, Isolated

MalaCards organs/tissues related to Melorheostosis, Isolated:

42
Bone, Skin, Cortex, Skeletal Muscle, Spinal Cord

Publications for Melorheostosis, Isolated

Articles related to Melorheostosis, Isolated:

(show top 50) (show all 242)
# Title Authors Year
1
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations. ( 30138550 )
2019
2
Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT. ( 30680447 )
2019
3
Melorheostosis with an associated para-articular enhancing soft tissue mass. ( 30825667 )
2019
4
Melorheostosis: a rare sclerosing bone dysplasia. Usefulness of bone scintigraphy. ( 30975488 )
2019
5
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. ( 30989250 )
2019
6
Melorheostosis causing compression of the common peroneal nerve at the fibular tunnel: a case report. ( 31051308 )
2019
7
Melorheostosis in the pediatric hand. ( 31110758 )
2019
8
Arthritis in Melorheostosis-An Uncommon Feature in a Rare Disease. ( 29108116 )
2018
9
Somatic activating mutations in MAP2K1 cause melorheostosis. ( 29643386 )
2018
10
Melorheostosis of a rib. ( 29997717 )
2018
11
CT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis. ( 30218789 )
2018
12
Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report. ( 30257703 )
2018
13
Melorheostosis of The Leg: A Case Report. ( 30647832 )
2018
14
Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. ( 27485676 )
2017
15
Melorheostosis with recurrent soft-tissue components: a histologically confirmed case. ( 28062900 )
2017
16
18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement. ( 28319505 )
2017
17
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. ( 28434888 )
2017
18
Melorheostosis-Foot and ankle perspective. ( 28544914 )
2017
19
Melorheostosis: a Rare Sclerosing Bone Dysplasia. ( 28676968 )
2017
20
A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder. ( 29234550 )
2017
21
Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report. ( 29242791 )
2017
22
Pelvic Pain Due to Ischial Tuberosity and Acetabular Melorheostosis-Multimodal Image Presentation. ( 26968610 )
2016
23
Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT. ( 27252746 )
2016
24
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
25
Poster 442 Intractable Pelvic Pain Due to Melorheostosis Managed with Spinal Cord Stimulation: A Case Report. ( 27673191 )
2016
26
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
27
Extensive melorheostosis of the ribs demonstrated on 18F-Fluoride PET/CT. ( 25367750 )
2015
28
Melorheostosis: segmental osteopoikilosis or a separate entity? ( 25575356 )
2015
29
Incidentally diagnosed melorheostosis of upper limb: case report. ( 25637225 )
2015
30
Melorheostosis involving the hand. ( 25708729 )
2015
31
Melorheostosis. ( 25798011 )
2015
32
Arthroscopic findings in melorheostosis. ( 25807097 )
2015
33
Melorheostosis of the spine and ribs. ( 25912499 )
2015
34
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty. ( 29252609 )
2015
35
Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty: A Case Report. ( 29252695 )
2015
36
Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome. ( 24763843 )
2014
37
Severe valgus deformity of the knee with permanent patellar dislocation associated with melorheostosis: a case report and review of the literature. ( 23306029 )
2014
38
Successful treatment of the pain associated with melorheostosis with spinal cord stimulation: a case study. ( 23663163 )
2014
39
Melorheostosis: Two atypical cases. ( 25024532 )
2014
40
Melorheostosis: a rare entity: a case report. ( 25489356 )
2014
41
Melorheostosis mimicking synovial osteochondromatosis. ( 25971832 )
2014
42
Melorheostosis - Case Report of Rare Disease. ( 27298954 )
2014
43
Melorheostosis causing lumbar radiculopathy: a case report and a review of the literature. ( 23541445 )
2013
44
Appearance of osteolysis with melorheostosis: redefining the disease or a new disorder? A novel case report with multimodality imaging. ( 23680113 )
2013
45
Successful treatment of pain in melorheostosis with zoledronate, with improvement on bone scintigraphy. ( 23813581 )
2013
46
Melorheostosis and central giant cell granuloma of the mandible in a 15-year-old girl. ( 24119529 )
2013
47
Melorheostosis and a review of the literature in China. ( 25343102 )
2013
48
Case report: Emergency department diagnosis of melorheostosis in the upper extremity: a rare disease with an unusual presentation. ( 20576391 )
2012
49
Melorheostosis in the hand and forearm. ( 21849883 )
2012
50
Bone scintigraphy elucidates different metabolic stages of melorheostosis. ( 22514755 )
2012

Variations for Melorheostosis, Isolated

Expression for Melorheostosis, Isolated

Search GEO for disease gene expression data for Melorheostosis, Isolated.

Pathways for Melorheostosis, Isolated

GO Terms for Melorheostosis, Isolated

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