Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 4  |  Issue : 2  |  Page : 87-90

Myositis ossificans progressiva: A clinico-radiological evaluation-Case report with brief review of literature


1 Department of Radiodiagnosis, Imaging and Interventional Radiology, N.S.C.B. Subharti Medical College, Swami Vivekanand Subharti University, Meerut, Uttar Pradesh, India
2 Department of Anaesthesiology and Critical Care, N.S.C.B. Subharti Medical College, Swami Vivekanand Subharti University, Meerut, Uttar Pradesh, India

Date of Web Publication10-Nov-2016

Correspondence Address:
Prashant K Gupta
108, Chanakyapuri, Shastri Nagar, Meerut - 250 004, Uttar Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-2585.193847

Rights and Permissions
  Abstract 

Myositis ossificans progressiva/fibrodysplasia ossificans progressiva (MOP), is an autosomal dominant mesodermal tissue disorder, characterized by an initial period of inflammation and subsequent proliferation of fibrous tissue with the formation of ectopic bone tissue. The incidence of MOP is one case per two million people. The ectopic bone tissue formed is located in soft tissue mainly in the connective tissue of striated musculature. We report MOP in an 18-year old female who presented with multiple tender, hard swelling in various parts of the body associated with stiffness and limitations of movements. A literature review of the subject showed few similar case reports in the literature. We revisit the criteria for diagnosis and the essentials of management and treatment of MOP as it is rare being a rare condition, and treatment guidelines are not clear.

Keywords: Bone, heterotopic, myositis


How to cite this article:
Rathee N, Gupta PK, Gupta K, Garg G. Myositis ossificans progressiva: A clinico-radiological evaluation-Case report with brief review of literature. J Orthop Allied Sci 2016;4:87-90

How to cite this URL:
Rathee N, Gupta PK, Gupta K, Garg G. Myositis ossificans progressiva: A clinico-radiological evaluation-Case report with brief review of literature. J Orthop Allied Sci [serial online] 2016 [cited 2019 Dec 10];4:87-90. Available from: http://www.joas.in/text.asp?2016/4/2/87/193847


  Introduction Top


Myositis ossificans progressiva (MOP) is a rare, autosomal dominant [1],[2],[3] disease affecting all ethnic backgrounds. [4] It is estimated that the incidence of the disease is 1 per 2 million people, and the prevalence is 2500 cases worldwide. [5] It is a connective tissue disease characterized by widespread, progressive, ectopic ossification of soft tissues (striated muscles, tendons, fasciae, ligaments, and subcutaneous tissues). [6] It is particularly disabling in children and is characterized by two cardinal features: heterotopic progressive osteogenesis and congenital abnormalities of the great toes. [7],[8] Classically, the disease is characterized by heterotopic ossification of soft tissues, which is usually complicated by restriction of movements at the affected sites. It usually starts and progresses in a craniocaudal, dorsal-ventral and proximodistal manner. [9] However, flares of the disease might occur at sites of trauma or injury. [10] The tongue, smooth muscles, diaphragmatic muscles and cardiac muscles are fortunately spared. [11]

The term fibrodysplasia ossificans progressiva is preferred to myositis ossificans because ectopic osteogenesis occurs in the connective tissue within muscles, fasciae, ligaments, tendons, and joint capsules, rather than in the muscle fibers themselves. These may show nonspecific, possibly secondary pathological changes. [8] There is no treatment for the Munchmeyer's disease. [12] However, knowledge of the genetic mutation will now provide hope for drug development and gene therapy for these patient's misery. [13] Since curative therapy is not available, management is based on the principle of primum non-nocere, particularly at preventing abnormal ossification. Therefore, an increased awareness of the disease among clinicians is of great importance.

We report on a patient with MOP having the progressive restriction of multiple joint movements.


  Case Report Top


The patient was an 18-year-old female who was referred to radiology department with multiple bony hard swellings with scoliosis causing limitation of movements and physical deformities. On further questioning, she was noted by her parents to have deformities and shortening of the great toes since childhood. The patient's past medical history revealed multiple episodes of spontaneous swellings at multiple sites, including chin, back, right upper limb and lower limbs. There was progressive restriction of movements of the hips, neck, right upper limb and lumbar spine with noticeable deformities. There was no familial relationship between the parents, and none of his family members had a similar problem. On examination, the patient was noted to have multiple nontender firm subcutaneous nodules in the chin, neck, and back with scoliosis of the lumbar spine. Both the great toes were short with valgus deformity [Figure 1].
Figure 1: X-ray and photograph of both foot showed great toes were short with valgus deformity

Click here to view


The radiological evaluation showed expansion of the posterior column of cervical vertebrae, as well as calcification and bony fusion with an ossified bridge between chin and sternum with straightening of the cervical spine [Figure 2]. The lumbosacral spine showed severe scoliosis with heterotopic ossification along the soft tissues dorsally [Figure 3], and the pelvis showed ossified bridges around the hip joints, extending from the ischium to the greater and lesser trochanters and the proximal shaft of femur [Figure 4]. Radiograph AP view of thigh and leg showing multifocal heterotopic ossification [Figure 5] and [Figure 6]. The thorax showed extensive multifocal heterotopic ossification and osseous bridging between ribs and ossified bridging of the right humerus [Figure 7] Blood and serological studies showed a normal hemogram, erythrocyte sedimentation rate, and serum calcium, alkaline phosphatase, creatine phosphokinase, alanine and aspartate transaminases, routine urinalysis, and creatinine clearance were within normal limits.
Figure 2: The cervical spine showed expansion of the posterior column of cervical vertebrae with calcification and bony fusion and ossified bridge between chin and sternum

Click here to view
Figure 3: Lumbosacral spine showed severe scoliosis with heterotopic ossification of soft tissues dorsally

Click here to view
Figure 4: Pelvis showed ossified bridges around the hip joints, extending from the ischium to the greater and lesser trochanters and to the proximal shaft of femur

Click here to view
Figure 5: Radiograph of leg showing multifocal heterotopic ossification

Click here to view
Figure 6: Radiograph of thigh showing multifocal heterotopic ossification

Click here to view
Figure 7: Thorax showed extensive multifocal heterotopic ossification and osseous bridging between ribs and ossified bridging of the right humerus

Click here to view



  Discussion Top


MOP is a rare autosomal dominant disease which should be diagnosed noninvasively as early as possible, based on history, clinical, and radiological findings. [7] It is clinically characterized by two main features, anomalies of the great toes and thumbs and progressive ectopic ossification of soft tissues causing limitation of movements.

Although the average onset age of the disease is about 5 years, [14] the affected child might be noticed after birth to have short and deformed great toes which occur in most of the cases of MOF. This was noticed by the parents of the patient during childhood. From birth until adolescence, the patient experiences spontaneous hard soft tissue swellings, which are usually painful. [10] These symptoms are usually the initial presentation of the patient and there might be flare-ups after trauma. Some cases present intensely with acute torticollis and painful mass in the sternocleidomastoid. [14] In most cases, it starts at the neck progressing downward to affect the thoracic and lumbar regions, and then the limbs. [10] Sternocleidomastoid is often the initial site of involvement, progresses to shoulder girdle, upper arms, spine and pelvis. The end result is bridging between extremities and torso, between ribs and between thorax and pelvis with severe restriction of motion. [14] As it was the case in our patient, scoliosis is the end result of this heterotopic ossification that occurs more on one side. [9] Even though the lungs are not usually affected directly by the disease, recurrent infections, and atelectasis usually occur due to restriction of chest expansion secondary to disease progression. [15] Affected patients usually become dependent and confined to wheelchair or bed at the second decade of their life as a result of ankylosing of all major joints of both axial and appendicular skeleton. Many patients were reported to have conductive hearing loss due to fusion of the ear ossicles. [10]

MOP is generally a clinical diagnosis that is based on the presence of congenital anomalies of the great toes, progressive heterotopic ossification, and the classical pattern of disease progression. Biopsies are not recommended for the diagnosis because they might worsen the ossification at the site, and diagnosis might be confused with bone malignancies like fibrosarcoma. [16]

Routine laboratory tests including calcemia and phosphatemia are usually normal or noncontributory in MOP. Roentgenograms may aid in documenting minor osseous dysmorphism. Bone scintigraphy with 99m Tc-methylene diphosphonate may demonstrate early the heterotopic ossification and aid in the assessment of the extent and progression of the disease.


  Conclusion Top


Early diagnosis prevents catastrophic harmful diagnostic and treatment procedures. It usually presents in a classical pattern with characteristic radiological findings on plain films. There is no effective treatment that can cure it or stop its progression. Physicians, health-care professionals, patients, and their families must be educated about the disease. Although drugs can be used to decrease some symptoms, the best approach is still the early diagnosis and prevention of trauma that can provide a better quality of life.

Financial support and sponsorship

Nil

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Connor JM, Skirton H, Lunt PW. A three generation family with fibrodysplasia ossificans progressiva. J Med Genet 1993;30:687-9.  Back to cited text no. 1
    
2.
Kaplan FS, McCluskey W, Hahn G, Tabas JA, Muenke M, Zasloff MA. Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family. J Bone Joint Surg Am 1993;75:1214-20.  Back to cited text no. 2
    
3.
Janoff HB, Tabas JA, Shore EM, Muenke M, Dalinka MK, Schlesinger S, et al. Mild expression of fibrodysplasia ossificans progressiva: A report of 3 cases. J Rheumatol 1995;22:976-8.  Back to cited text no. 3
    
4.
Delatycki M, Rogers JG. The genetics of fibrodysplasia ossificans progressiva. Clin Orthop Relat Res 1998; 346:15-8.  Back to cited text no. 4
    
5.
Smith R. Fibrodysplasia (myositis) ossificans progressiva. Clinical lessons from a rare disease. Clin Orthop Relat Res 1998; 346: 7-14.  Back to cited text no. 5
    
6.
Nucci A, Queiroz LD, Santos AD, Camargo EE, Moura-Ribeiro MV. Fibrodysplasia ossificans progressiva: Case report. Arq Neuropsiquiatr 2000;58:342-7.  Back to cited text no. 6
    
7.
Buyse G, Silberstein J, Goemans N, Casaer P. Fibrodysplasia ossificans progressiva: Still turning into wood after 300 years? Eur J Pediatr 1995;154:694-9.  Back to cited text no. 7
    
8.
Brooke MH, editor. Myositis ossificans progressiva. In: A Clinicians View of Neuromuscular Diseases. 2 nd ed. Baltimore: Williams & Wilkins; 1986. p. 239-42.  Back to cited text no. 8
    
9.
Khan SA, Zahid M, Asif N, Gogi N. Unusual presentations in myositis ossificans progressiva. A case report. Acta Orthop Belg 2001;67:86-9.  Back to cited text no. 9
    
10.
Gonçalves AL, Masruha MR, de Campos CC, Delai PL, Vilanova LC. Fibrodysplasia ossificans progressiva: Case report. Arq Neuropsiquiatr 2005;63:1090-3.  Back to cited text no. 10
    
11.
Norman A. Myositis ossificans & fibrodysplasia ossificans progressiva. In: Taveras J, Ferrucci JT, editors. Radiology: Diagnosis, Imaging, Intervention. Vol. 5, Ch. 132. Philadelphia: Lippincott Raven Publishers; 1996. p. 6-9.  Back to cited text no. 11
    
12.
Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics 2005;116:e654-61.  Back to cited text no. 12
    
13.
Kaplan FS, Glaser DL, Pignolo RJ, Shore EM. A new era for fibrodysplasia ossificans progressiva: A druggable target for the second skeleton. Expert Opin Biol Ther 2007;7:705-12.  Back to cited text no. 13
    
14.
Hagiwara H, Aida N, Machida J, Fujita K, Okuzumi S, Nishimura G. Contrast-enhanced MRI of an early preosseous lesion of fibrodysplasia ossificans progressiva in a 21-month-old boy. AJR Am J Roentgenol 2003;181:1145-7.  Back to cited text no. 14
    
15.
Kussmaul WG, Esmail AN, Sagar Y, Ross J, Gregory S, Kaplan FS. Pulmonary and cardiac function in advanced fibrodysplasia ossificans progressiva. Clin Orthop Relat Res 1998;346:104-9.  Back to cited text no. 15
    
16.
Thickman D, Bonakdar-Pour A, Clancy M, Van Orden J, Steel H. Fibrodysplasia ossificans progressiva. AJR Am J Roentgenol 1982;139:935-41.  Back to cited text no. 16
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
Abstract
Introduction
Case Report
Discussion
Conclusion
References
Article Figures

 Article Access Statistics
    Viewed1574    
    Printed12    
    Emailed0    
    PDF Downloaded166    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]