Display Settings:

Format

Send to:

Choose Destination

Melorheostosis(MEL)

MedGen UID:
7525
Concept ID:
C0025239
Disease or Syndrome
Synonyms: MEL; MELORHEOSTOSIS, ISOLATED
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Melorheostosis (44697002); Rheostosis (44697002); Leri's disease (44697002); Candle wax disease (44697002); Flowing hyperostosis (44697002); Osteopathia hyperostotica congenita (44697002)
 
Gene (location): LEMD3 (12q14.3)
OMIM®: 155950
Orphanet: ORPHA2485

Definition

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). [from OMIM]

Clinical features

Lower limb asymmetry
MedGen UID:
451882
Concept ID:
CN117452
Finding
A difference in length or diameter between the left and right leg.
Cranial nerve paralysis
MedGen UID:
505987
Concept ID:
CN005942
Finding
Arthralgia
MedGen UID:
409545
Concept ID:
C1963066
Finding
Bone pain
MedGen UID:
368783
Concept ID:
C1963077
Finding
Chondrocalcinosis
MedGen UID:
504652
Concept ID:
CN000875
Finding
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Arthritis
MedGen UID:
504815
Concept ID:
CN001254
Finding
Inflammation of a joint.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Skeletal dysplasia
MedGen UID:
505316
Concept ID:
CN002411
Finding
A general term describing features characterized by abnormal development of bones and connective tissues.
Increased bone mineral density
MedGen UID:
451275
Concept ID:
CN116733
Finding
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Hyperostosis
MedGen UID:
506537
Concept ID:
CN117664
Finding
Excessive growth or abnormal thickening of bone tissue.
Atypical scarring of skin
MedGen UID:
427850
Concept ID:
CN000924
Finding
Atypically scarred skin .
Thickened skin
MedGen UID:
504710
Concept ID:
CN001007
Finding
Laminar thickening of skin.
Peripheral arteriovenous fistula
MedGen UID:
452014
Concept ID:
CN117674
Finding
Lymphedema
MedGen UID:
320553
Concept ID:
C1835229
Finding
Skeletal muscle atrophy
MedGen UID:
505481
Concept ID:
CN002890
Finding
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Chondrocalcinosis
MedGen UID:
504652
Concept ID:
CN000875
Finding
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Atypical scarring of skin
MedGen UID:
427850
Concept ID:
CN000924
Finding
Atypically scarred skin .
Lower limb asymmetry
MedGen UID:
451882
Concept ID:
CN117452
Finding
A difference in length or diameter between the left and right leg.

Term Hierarchy

Recent clinical studies

Etiology

Pavone V, Evola RF, Di Giorgio A, Ruggieri M, Ardito S
Orthopedics 2008 May;31(5):498. PMID: 19292305
Chanda B, Millner RW
Ann Thorac Surg 2007 Apr;83(4):1518-9. doi: 10.1016/j.athoracsur.2006.09.055. PMID: 17383370
Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR
Hum Mutat 2006 Mar;27(3):290. doi: 10.1002/humu.9403. PMID: 16470551
Judkiewicz AM, Murphey MD, Resnik CS, Newberg AH, Temple HT, Smith WS
Skeletal Radiol 2001 Aug;30(8):447-53. doi: 10.1007/s0025610300447. PMID: 11479750
Moreno Alvarez MJ, Lázaro MA, Espada G, Barceló HA, Maldonado Cocco A
Clin Rheumatol 1996 Jul;15(4):389-93. PMID: 8853175

Diagnosis

Kadhim M, Deardorff MA, Dubbs H, Zackai EH, Dormans JP
J Pediatr Orthop 2015 Mar;35(2):e13-7. doi: 10.1097/BPO.0000000000000384. PMID: 25575356
Abdullah S, Mat Nor NF, Mohamed Haflah NH
Singapore Med J 2014 Apr;55(4):e54-6. PMID: 24763843Free PMC Article
Kitta Y, Niki Y, Udagawa K, Enomoto H, Toyama Y, Suda Y
Knee 2014 Mar;21(2):589-93. Epub 2013 Jan 8 doi: 10.1016/j.knee.2012.11.004. [Epub ahead of print] PMID: 23306029
Anderson KM, Shintaku WH, Rosebush MS, Rawal YB, Woodard ES
Oral Surg Oral Med Oral Pathol Oral Radiol 2013 Nov;116(5):e399-404. doi: 10.1016/j.oooo.2013.07.028. PMID: 24119529
Osher LS, Blazer MM, Bumpus K
J Foot Ankle Surg 2013 Sep-Oct;52(5):602-11. Epub 2013 May 14 doi: 10.1053/j.jfas.2013.03.022. [Epub ahead of print] PMID: 23680113

Therapy

Slimani S, Nezzar A, Makhloufi H
BMJ Case Rep 2013 Jun 21;2013 doi: 10.1136/bcr-2013-009820. PMID: 23813581Free PMC Article
Saadallaoui Ben Hamida K, Ksontini I, Rahali H, Mourali S, Fejraoui N, Bouhaouala H, Charfi MR, Dougui MH
Tunis Med 2009 Mar;87(3):204-6. PMID: 19537015
Donáth J, Poór G, Kiss C, Fornet B, Genant H
Skeletal Radiol 2002 Dec;31(12):709-13. Epub 2002 Oct 29 doi: 10.1007/s00256-002-0576-y. [Epub ahead of print] PMID: 12483433
Dimar JR 2nd, Campion TS
Orthop Rev 1987 Sep;16(9):615-21. PMID: 3331196
Semble EL, Poehling GG, Prough DS, White RE, Pisko EJ
Clin Exp Rheumatol 1986 Jul-Sep;4(3):277-80. PMID: 3769244

Prognosis

Tekin L, Akarsu S, Durmuş O, Kiralp MZ
Am J Phys Med Rehabil 2012 Jan;91(1):96. doi: 10.1097/PHM.0b013e318224166b. PMID: 21849883
Leuenberger M, Braunwalder J, Schmid RA, Stanga Z
Saudi Med J 2008 Nov;29(11):1666-8. PMID: 18998022
Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR
Hum Mutat 2006 Mar;27(3):290. doi: 10.1002/humu.9403. PMID: 16470551
Reznik M, Fried GW
Arch Phys Med Rehabil 2005 Jul;86(7):1495-7. PMID: 16003689
Ishibe M, Inoue M, Saitou K
Arch Orthop Trauma Surg 2002 Feb;122(1):56-7. PMID: 11995885

Clinical prediction guides

Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP
Clin Genet 2009 Jun;75(6):556-61. Epub 2009 May 5 doi: 10.1111/j.1399-0004.2009.01177.x. [Epub ahead of print] PMID: 19438932
Kuttenberger JJ, Hardt N, Gebbers JO, Hofer B
Int J Oral Maxillofac Surg 2006 Dec;35(12):1164-7. Epub 2006 Sep 11 doi: 10.1016/j.ijom.2006.06.015. [Epub ahead of print] PMID: 16965904
Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR
Hum Mutat 2006 Mar;27(3):290. doi: 10.1002/humu.9403. PMID: 16470551
Reznik M, Fried GW
Arch Phys Med Rehabil 2005 Jul;86(7):1495-7. PMID: 16003689
Todesco S, Bedendo A, Punzi L, D'Angelo A, Romani S
Clin Exp Rheumatol 1983 Oct-Dec;1(4):349-52. PMID: 6681153

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...