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Year : 2006  |  Volume : 16  |  Issue : 4  |  Page : 619-621
A rare case of melorrheostosis with articular involvement: MR appearance


Department of Radiodiagnosis & Imaging, B. J. Medical College, Civil Hospital, Ahmedabad, India

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Date of Submission24-Apr-2006
Date of Acceptance10-Aug-2006
 

Keywords: Melorrheostosis, MRI, articular,sclerotome

How to cite this article:
Patel A M, Vaghela D U, Kumar S, Shah U A, Shah A K, Shah H R. A rare case of melorrheostosis with articular involvement: MR appearance. Indian J Radiol Imaging 2006;16:619-21

How to cite this URL:
Patel A M, Vaghela D U, Kumar S, Shah U A, Shah A K, Shah H R. A rare case of melorrheostosis with articular involvement: MR appearance. Indian J Radiol Imaging [serial online] 2006 [cited 2019 Nov 16];16:619-21. Available from: http://www.ijri.org/text.asp?2006/16/4/619/32283
Melorrheostosis is a rare bone disease characterized by slowly progressing hyperostosis. It is a developmental error with sclerotomal distribution, etiology of which is unknown. Commonly, it affects shafts of tubular bones with characteristic appearance resembling wax dripping down a candle. We studied MR appearances of a tibial monostotic lesion extending to the knee joint.


   Case report Top


A twenty-eight year old woman presented with complains of pain and stiffness in left knee. Overlying skin was normal. Limitation of motion at left knee joint was found. Serum calcium, phosphorus and alkaline phosphatase levels were normal.

Anteroposterior and lateral radiographs of left knee with proximal tibia and fibula showed dense sclerosis involving anterior cortex and adjacent medullary cavity of proximal tibia with wavy inner margin [Figure - 1]. It was running from proximal end of tibia down to involve proximal quarter of its shaft. Sclerotic lesions were also seen extending proximally to the knee joint. No bone expansion was detected. Fibula appeared normal. Melorrheostosis was diagnosed.

Plain CT scan showed high attenuation new bone formation along periosteal and endosteal aspect of the proximal tibia [Figure - 2]. Its inner wavy margin was clearly shown encroaching into the medullary cavity.

Plain MRI was performed by obtaining T1W, T2W and STIR images in axial, sagittal and coronal planes on 0.5T strength. Profoundly low signal intensity hyperostosis on all pulse sequences was confirmed in the tibia as well as about the knee joint corresponding to the lesions found on radiographs and CT scan. Intermediate signal intensities on T1W image [Figure - 3] and intermediate to high signal intensities on T2W image [Figure - 4] representing fibrovascular tissue components were also detected. Increased amount of knee joint fluid was noted. MRI assured normalcy of muscles and other soft tissues.


   Discussion Top


Melorrheostosis is a rare osteosclerotic bone dysplasia of unknown etiology. Leri and Joanny reported it in 1922 [1]. Leri's disease, hyperostose en coulee de bougie, osteosis eburnisans monomelia and osteopathia hyperostotica congenita membri unius are other synonyms [2]. This mesenchymal dysplasia is a developmental error at the site of both intramembranous and endochondral bone formation predominantly affecting the former.

Most authors deny hereditary tendency [2]. Hellemans described loss of function mutation in LEMD3 gene (MAN 1) for melorrheostosis [3]. Debeer described a case of melorrheostosis with a mutation in the second allele in a family having osteopoikilosis [4]. Melorrheostotic lesions were correlated with one or more sclerotomal distribution by Murray et al [1]. A sclerotome is a zone of the skeleton supplied by an individual spinal sensory nerve. They hypothesized that a neural infection results in lesions distributed along tissues supplied by that nerve root. This may in part explain the monomelic tendency and linear track pattern of melorrheostosis.

Age of presentation varies widely, 50 % of the cases presenting in first two decades. There is no sex predilection. The condition is often incidentally detected. The disease usually is asymptomatic in children. In adults, pain, joint stiffness, deformity, contractures and muscle wasting may occur. The involved extremity may be shorter or less frequently longer than the uninvolved member [2] [5]. Patients with melorrheostosis may have associated cutaneous and soft tissue lesions such as vascular malformations, neurofibromas, hemangiomas, aneurysm, linear scleroderma, tuberous sclerosis and focal subcutaneous fibrosis. Melorrheostosis has also been seen with osteopoikilosis, osteopathia striata and mixed sclerosing bone dystrophy [2],[5]. Laboratory results are normal. The clinical course is usually slowly progressive.

Radiographic findings are often limited to a single limb (monomelic). The lower extremity is more often affected than the upper extremity. The axial skeleton is less affected. The classic finding is that of undulating cortical hyperostosis in one bone (monostotic) or a series of bones (polyostotic) [2]. The appearance of osseous excrescence extending along the length of the bone simulates that of wax flowing down the side of the lit candle [5]. The anomaly got its name from the Greek word for limb (melos) and flow (rhein). The new bone formation mostly involves one side of cortex of a tubular bone with periosteal and endosteal involvement. Variable degree of intramedullay encroachment is present. Endosteal pattern marked by streakiness of the long bones and spotting of the small bones is characteristic of the childhood cases while in adults subperiosteal or extracortical pattern predominates. Lesions involving one or more sclerotomes are one of the distinguishing features of the disease [1]. In our case the sclerotome involved was L4. Cortical lesions are progressive and cause narrowing of medullary canal and narrowing of adjacent foramen. The cortical hyperostosis may extend to nearby joint with or without joint effusion. Heterotopic bone formation and soft tissue calcification can be encountered.

CT scan and MRI can further characterize the lesions. CT scan will show clear demarcation between normal and abnormal bone [6]. CT scan is helpful to confirm or exclude continuity of osseous and soft tissue abnormalities [7]. MR imaging shows heterogeneous signal intensity due to mixture of osseous, fibrous, adipose and cartilaginous tissue which these lesions contain [6] [7]. Judkiewicz et al showed intraarticular extension of melorrheostosis in 35% of cases in their series [6]. It may result from mineralization of soft tissue masses associated with melorrheostosis or be related to mechanical cartilage damage with resultant osteochondral fragments.

Bone scintigraphy may be instrumental in confirming the diagnosis in equivocal cases [8]. A three phase Tc-99m scintigraphy shows moderately increased uptake of the radiopharmaceutical.

Histpopathological examination shows variable degree of marrow fibrosis along with irregular bone with mixed areas of lamellar and woven bone. Soft tissue masses show osteocartilaginous, fibrovascular and adipose tissue components. Haversian system is intact with no evidence of inflammation [7] [2].

Osteopoikilosis is differentiated from melorrheostosis by symmetrical involvement, absence of soft tissue involvement, negative scintigraphy, no clinical complaints and autosomal dominancy [2]. Localised melorrheostosis should be differentiated from myositis ossificans, calcified hematoma and parosteal osteocarcoma. Other sclerosing dysplsias are more diffuse and have negative scintigraphy. Jaffe -Lichenstein polyostotic fibrous dysplasia is one sided but shows more frequent osteolytic areas and its histopathological changes. Caffey's disease shows less dense periosteal reaction and is found in different locations. Ollier's disease, neurofibromatosis, tuberous sclerosis and Engelmann's disease can sometimes look like melorrheostosis [5].

In conclusion, radiographs are diagnostic for melorrheostotic lesions. MR imaging is useful to detect the presence and extent of associated mineralized and nonmineralised soft tissue masses and may obviate unwarranted biopsy and a radical procedure.

 
   References Top

1.Murray R, McCreide J: Melorrheostosis and the Sclerotomes: A Radiological Correlation. Skeletal Radiology 4:57-71, 1979.  Back to cited text no. 1    
2.Green A., et al. Melorrheostosis and osteopoikilosis. AJR 87: 1096-1111, 1962.  Back to cited text no. 2    
3.Hellemans J., Preobrazhenska O., Willaert A. et al. loss-of function mutations in LEMD3 result in osteopoikilosis, Buschke-ollendorff syndrome and Melorrheostosis. Nature Genet. 36:1213-1218, 2004.  Back to cited text no. 3    
4.Debeer P., Pykels E., Lammens J. et al. Melorrheostosis in a family with autosomal dominant osteopoikilosis. Am. J. Med. Genet. 119A:188-193, 2003.  Back to cited text no. 4    
5.Resnik D. and Niwayama G. In : Diagnosis of bone and joint disorders, 3rd edition. D. Resnik, editor. W.B. Saunders Co., Philadelphia, 1995. Vol.6 pages 4396-4415.  Back to cited text no. 5    
6.Judkiewicz Aron et al. Advanced imaging of Melorrheostosis with emphasis on MRI. Skeletal Radiology. 30:447-453,2001.  Back to cited text no. 6    
7.Yu J., Resnik D. et al. Melorrheostosis with an ossified soft tissue mass: MR features. Skeletal Radiology 24:367-370, 1995.  Back to cited text no. 7    
8.Greenspan A. and E.M. Arzouz. Bone dysplasia series. Melorrheostosis: Review and update. Can Assoc Radiol J 50, no 5:324-30, 1999.  Back to cited text no. 8    

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Correspondence Address:
A M Patel
42, Nirant Park, Part-1, Opp. Sun-n-Step Club, Thaltej, Post-Ghatlodia, Ahmedabad-380061
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.32283

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    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]

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