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 Table of Contents  
CASE REPORT
Year : 2012  |  Volume : 1  |  Issue : 3  |  Page : 183-185

Melorheostosis in young adult: A diagnostic dilemma


1 Department of Orthopaedics, Grant Medical College, Sir J.J. Group of Hospitals, Mumbai, India
2 Department of Medicine, Grant Medical College, Sir J.J. Group of Hospitals, Mumbai, India
3 Department of Orthopaedics, Civil Hospital, Thane, Maharashtra, India
4 Department of Orthopaedics, K.E.M Hospital and Maharashtra University of Health Sciences, Nashik, India

Date of Web Publication26-Dec-2012

Correspondence Address:
Tushar N Rathod
Department of Orthopaedics, Grant Medical College, Sir J.J. Group of Hospitals, Mumbai
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2278-344X.105084

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  Abstract 

Melorheostosis is one of noninheritable developmental mesenchymal dysplastic condition, included in sclerosing bone disorders. It was described by Léri and Joanny as "hyperostose en coulee" i.e. hyperostosis resembling flowing candle wax. It follows a sclerotomal pattern and is usually monomelic though single bone or multiple bone of same limb may be affected. This is rare case report of middle aged man who presented with intermittent episodes of pain and swelling around ankle after a episode of trauma with radiological features suggestive of sclerotic lesions involving tibia, tarsals and metatarsals, suggesting activation of quiescent lesions symptomatically after trauma. Thus this article highlights possibility of keeping diagnosis of Melorheostosis in mind while dealing with such type of case and avoid unnecessary intervention to address radiological lesion.

Keywords: Hyperostosis, melorheostosis, sclerosing bone disorder


How to cite this article:
Rathod TN, Chandanwale A, Chavan S, Rathod S, Patil PM. Melorheostosis in young adult: A diagnostic dilemma. Int J Health Allied Sci 2012;1:183-5

How to cite this URL:
Rathod TN, Chandanwale A, Chavan S, Rathod S, Patil PM. Melorheostosis in young adult: A diagnostic dilemma. Int J Health Allied Sci [serial online] 2012 [cited 2023 Dec 10];1:183-5. Available from: https://www.ijhas.in/text.asp?2012/1/3/183/105084


  Introduction Top


Melorheostosis is one of the non-inheritable developmental mesenchymal dysplastic conditions included in sclerosing bone disorders. It was described by Léri and Joanny [1] as "hyperostose en coulee" i.e., hyperostosis resembling flowing candle wax. It follows a sclerotomal pattern and is usually monomelic though single bone or multiple bone of same limb may be affected.

This is a rare case report of middle-aged man who presented with intermittent episodes of pain and swelling around ankle after a episode of trauma with radiological features suggestive of sclerotic lesions involving tibia, tarsals and metatarsals, suggesting activation of quiescent lesions symptomatically after trauma. Thus, this article highlights the possibility of keeping the diagnosis of melorheostosis in mind while dealing with such type of cases and avoiding unnecessary intervention to address radiological lesion.


  Case Report Top


A 32-year-old adult male presented with intermittent episodes of pain and swelling involving left ankle region. The patient had a history of blunt trauma to ankle 2 months back, which was treated symptomatically with rest and immobilization following which the patient had a symptom-free period of 15 days. Then, the patient started getting multiple episodes of swelling along with diffuse pain around ankle and foot.

On examination, the patient had tenderness along distal anterior aspect of tibia, talus, navicular and base of first metatarsal. It was associated with soft tissue swelling of the ankle and foot region. Movements at ankle and tarsals joint were full and free. On investigation, X-ray and MRI as in [Figure 1] and [Figure 2] showed multiple irregular sclerotic cortical and medullary lesions involving distal articular surface of tibia, talus, navicular, medial and middle cuneiform, along with base of first and second metatarsal. There is no evidence of lysis around lesions and is associated with reactive soft tissue edema. On screening similar lesions were seen around ipsilateral knee joint involving proximal tibia as seen in [Figure 3] though the patient was asymptomatic. Biopsy of the lesion showed no conclusive finding. Serum biochemistry including enzymes along with hematological examination was normal. The patient was given symptomatic treatment with analgesics and rest, who later responded to treatment.
Figure 1: (Part a and b) All 4X‑rays showwavy cortical hyperostosis that extends along distal articular surface of tibia, talus, navicular, medial and middle cuneiform, along with the base of first and second metatarsal

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Figure 2: MRI shows irregular intramedullary and cortical sclerotic lesions visualized in lower end of tibia, articular surface of talus, navicular, medial and middle cuneiform, first and second metatarsal with no e/o lysis, and diffuse subcutaneous swelling

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Figure 3: X‑ray screening of multiple joints showed involvement of ipsilateral knee joint, whereas contralateral knee joint and hand appeared to be normal

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  Discussion Top


Melorheostosis occurs commonly in young and middle aged with no sex predilection. [2] Etiology was unknown till recently when mutation in LEMD3 gene was found to be contributory in causing melorheostosis, osteopoikilosis and Buschke-Ollendroff syndrome. [3] LEMD3 also known as MAN1encodes for integral protein of inner nuclear membrane, which causes abnormality in both endochondral and intramembranous calcification.

It can present in unpredictable manner, with usually pain and intermittent episodes of pain and swelling with limitation of movement of joint as it was presented in our case. Course of disease could be insidious with slow progression and intermittent exacerbations. Soft tissue involvement can be associated with stiffness due to soft tissue contracture or calcification. [4] Rarely, it can present with limb length discrepancy, ligament or tendon shortening, or malformation of blood or lymph vessels. [5] It can be associated with hyperpigmented patches, scleroderma or tuberous-like lesions, [6],[7] which were absent in our case.

X-ray showed wavy cortical hyperostosis that extends along the length of the bone, resembling flowing candle wax as seen in our case with involvement of tibia and multiple tarsal bones with mixed pattern of lesion. [8] Magnetic resonance imaging (MRI) features of melorheostosis include hyperostosis, which appears as uniform hypointensity on all imaging sequences. [9] The Tc-99m-MDP three-phase bone scintigraphy imaging show moderate to severe increase in tracer in the early and late images, including soft-tissue and blood pool stages of scintigraphy though it is not much informative. Even biopsy shows inconclusive finding in most cases. Diagnosis is based on both clinical and radiographic evidence.

Differential diagnosis includes parosteal osteosarcoma in localized case, myositis ossificans or calcified hematoma in case of soft tissue calcifications. If it is associated with vascular or skin abnormality, then differentials of Maffucci syndrome, Ollier disease, Klippel-Trenaunay and  Sturge- Weber syndrome More Details More Details, Albright polyostotic fibrous dysplasia, and other mosaic/localized disorders, which in the present case were ruled out clinically and radiographically.

This condition is known to undergo spontaneous remission. Our case also responded to conservative management. Treatment usually is symptomatic with anti-inflammatory drugs, though surgical measures such as osteotomies, excision, capsulotomies or tendon lengthening can be considered. Rarely, amputation may be required in severely affected limbs. [10]

Thus, this case denotes asymptomatic case of melorheostosis brought to notice by minor trauma in a young adult who ultimately responded to conservative treatment. It is also important to notice the presence of associated asymptomatic lesions, like in our case it was around ipsilateral knee joint, however their significance can be determined only in long-term follow-up. Thus, this article highlights the possibility of keeping the diagnosis of melorheostosis in mind while dealing with such type of cases and avoiding unnecessary intervention to address radiological lesion.

 
  References Top

1.Léri A, Joanny J. Une affection non décrite des os: Hyperostose "en coulée" sur toute la longueur d′un membre ou "mèlorhèostose." Bulletin Membre Societe Hospital Paris 1922;46:1141-5.  Back to cited text no. 1
    
2.Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 2004;36:1213-8.  Back to cited text no. 2
    
3.OMIM TM . Online Mendelian Inheritance in Man. Baltimore: The Johns Hopkins University; 2006. Available from: http://www.ncbi.nlm.nih.gov/omim. [Last accessed on 2006 Jul].  Back to cited text no. 3
    
4.Dissing I, Zafirovski G. Para-articular ossification associated with melorheostosis Leri. Acta Orthop Scand 1979;50:717-9.  Back to cited text no. 4
    
5.Campbell CJ, Papademetriou T, Bonfiglio M. Melorheostosis, a report of the clinical roentgenographic and pathologic findings in fourteen cases. J Bone Joint Surg Am 1968;50:1281-304.  Back to cited text no. 5
    
6.Morris JM, Samilson RL, Corley SC. Melorheostosis. Review of the literature and report of an interesting case with a nineteen-year follow-up. J Bone Joint Surg Am 1963;45:1191-206.  Back to cited text no. 6
    
7.Perlman MD. Melorheostosis: A case report and a literature review. J Foot Surg 1990;29:353-6.  Back to cited text no. 7
    
8.Freyschmdt J. Melorheostosis: A review of 23 cases. Eur Radiol 2001;11:474-9.  Back to cited text no. 8
    
9.Greenspan A, Azouz EM.Bone dysplasia series. Melorheostosis: Review and update. Can Assoc Radiol J 1999;50:324-30.  Back to cited text no. 9
    
10.Wiater JM, King JC, Louis DS, Smith J. Melarrheostosis of hand: A comprehensive review. Hand Surg 1998;3:123-30.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]


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