Indian Journal of Nuclear Medicine

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

Fibrodysplasia ossificance progressiva: A familial presentation

Shwetal Uday Pawar, Sarita Sahoo, Ashmi Manglunia, Gundu Hari Tilve 
 Department of Nuclear Medicine, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India

Correspondence Address:
Shwetal Uday Pawar
Department of Nuclear Medicine, KEM Hospital, Ground Floor of Orthopedic Center, Opp. Tata Hospital, Parel, Mumbai - 400 012, Maharashtra


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.

How to cite this article:
Pawar SU, Sahoo S, Manglunia A, Tilve GH. Fibrodysplasia ossificance progressiva: A familial presentation .Indian J Nucl Med 2015;30:290-291

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Pawar SU, Sahoo S, Manglunia A, Tilve GH. Fibrodysplasia ossificance progressiva: A familial presentation . Indian J Nucl Med [serial online] 2015 [cited 2022 Jul 6 ];30:290-291
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Full Text

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}{Figure 2}

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]


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