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Year : 2015  |  Volume : 30  |  Issue : 3  |  Page : 290-291  

Fibrodysplasia ossificance progressiva: A familial presentation


Department of Nuclear Medicine, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India

Date of Web Publication11-Jun-2015

Correspondence Address:
Shwetal Uday Pawar
Department of Nuclear Medicine, KEM Hospital, Ground Floor of Orthopedic Center, Opp. Tata Hospital, Parel, Mumbai - 400 012, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-3919.151657

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   Abstract 

Fibrodysplasia ossificans progressiva is a rare disorder progressing to ossification of tissues causing disability. We report a case of father and daughter in a family presenting with this condition. The diagnosis was made with X-rays. However, Technetium-99m Methylene Diphosphonate bone scan showed extensive extra-osseous localization of tracer suggesting ossification of multiple ligaments, tendons, muscles and connective tissue.

Keywords: Extra-osseous calcification, fibrodysplasia ossificans Progressiva, Technetium-99m Methylene Diphosphonate bone scan


How to cite this article:
Pawar SU, Sahoo S, Manglunia A, Tilve GH. Fibrodysplasia ossificance progressiva: A familial presentation . Indian J Nucl Med 2015;30:290-1

How to cite this URL:
Pawar SU, Sahoo S, Manglunia A, Tilve GH. Fibrodysplasia ossificance progressiva: A familial presentation . Indian J Nucl Med [serial online] 2015 [cited 2019 Dec 12];30:290-1. Available from: http://www.ijnm.in/text.asp?2015/30/3/290/151657

A 45-year-old man presented with deformities of fingers and toe since childhood and fixed flexion deformity of the pelvis after a fall 2 years back [Figure 1]. He had deformed, and shortened fingers and toes as shows in the [Figure 1]b. His X-ray of pelvis and femur region revealed linear calcification joining left ischeal tuberosity with the medial aspect of left femur that was the cause of his fixed flexion deformity of the pelvis. The 19-year-old daughter of the man also had fixed flexion deformity of right hip joint region. The neck flexion was impaired and complained of pain in the chest on deep inspiration. The X-ray of the hip region revealed ectopic calcification of the ligaments and muscles anterior to the right hip joint. The Technetium-99m Methylene Diphosphonate (Tc-99m MDP) bone scan is done in above two cases revealed the extent of extra-osseous calcification in detail as marked in [Figure 1] and [Figure 2].
Figure 1: (a) Static planar images of technetium-99m methylene diphosphonate bone scan showed extra-osseous calcification in small joints of both hands (yellow arrow), psoas muscle bilaterally (black arrow), linear calcification joining left ischeal tuberosity and medial border of shaft of left femur (red arrow), insertion of sartorius muscle at upper tibia (white arrow). (b) Toe deformities. (c and d) Extra-osseous bone formation joining left ischeal tuberosity and medial border of shaft of femur (green arrow) on X-ray anterior-posterior and lateral views respectively

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Figure 2: (a) Technetium-99m methylene diphosphonate bone scan showed ectopic calcification in various muscles: Left trapezius and scapular region (blue arrow), right pectoral (red arrow), ligaments and para-spinal muscles in dorsal and lumbar region (transparent arrow), intercostals and chest wall bilaterally (black arrow), bilateral psoas (green arrow), linear calcification joining right inferior superior iliac spine and greater trochanter (yellow arrow), inter-tarsal joints bilaterally (purple arrow) (b) X-ray of pelvis showing calcification between right inferior superior iliac spine and greater trochanter (yellow arrow)

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The extra-osseous calcification is seen on Tc-99m MDP bone scan due various pathologies. Fibrodysplasia ossificans progressiva being one of the rare causes of connective tissue differentiation characterized by congenital malformation of the great toe and progressive heterotopic ossification of tendons, ligaments, fascia, and skeletal muscle. [1],[2],[3],[4] It shows autosomal dominant mode of inheritance; where bone morphogenic protein 4 is found to be over-expressed in lymphoblastoid cells in periosseous fibroproliferative lesion cells of these patients. [5],[6],[7],[8],[9] Tc-99m MDP bone scintigraphy demonstrates heterotrophic ossification in the early stage and helps in the assessment of the extent and progression of the disease. [10],[11] Since curative therapy is not available; prevention of injuries, trauma and subsequently formation of ectopic ossification. [12]



 
   References Top

1.
Brantus JF, Meunier PJ. Effects of intravenous etidronate and oral corticosteroids in fibrodysplasia ossificans progressiva. Clin Orthop Relat Res 1998 ;346:117-20.  Back to cited text no. 1
    
2.
Bridges AJ, Hsu KC, Singh A, Churchill R, Miles J. Fibrodysplasia (myositis) ossificans progressiva. Semin Arthritis Rheum 1994;24:155-64.  Back to cited text no. 2
    
3.
Calvert GT, Shore EM. Human leukocyte antigen B27 allele is not correlated with fibrodysplasia ossificans progressiva. Clin Orthop Relat Res 1998 ;346:66-70.  Back to cited text no. 3
    
4.
Cohen RB, Hahn GV, Tabas JA, Peeper J, Levitz CL, Sando A, et al. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. J Bone Joint Surg Am 1993;75:215-9.  Back to cited text no. 4
    
5.
Virdi AS, Shore EM, Oreffo RO, Li M, Connor JM, Smith R, et al. Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva. Calcif Tissue Int 1999;65:250-5.  Back to cited text no. 5
    
6.
Gannon FH, Valentine BA, Shore EM, Zasloff MA, Kaplan FS. Acute lymphocytic infiltration in an extremely early lesion of fibrodysplasia ossificans progressiva. Clin Orthop Relat Res 1998 ;346:19-25.  Back to cited text no. 6
    
7.
Ahn J, Serrano de la Pena L, Shore EM, Kaplan FS. Paresis of a bone morphogenetic protein-antagonist response in a genetic disorder of heterotopic skeletogenesis. J Bone Joint Surg Am 2003;85-A: 667-74.  Back to cited text no. 7
    
8.
Kaplan FS, Glaser DL, Hebela N, Shore EM. Heterotopic ossification. J Am Acad Orthop Surg 2004;12:116-25.  Back to cited text no. 8
    
9.
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. 9
    
10.
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. 10
    
11.
Hashemi J, Shahfarhat A, Beheshtian A. Fibrodysplasia ossificans progressiva: report of a case and review of articles. Iran J Radiol 2011;8:113-7.  Back to cited text no. 11
    
12.
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. 12
    


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  [Figure 1], [Figure 2]



 

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