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Year : 2005  |  Volume : 15  |  Issue : 3  |  Page : 347-348
Fibrodysplasia ossificans progressiva


Dept of Radiodiagnosis, P.D.U. Medical College & Hospital, Rajkot, India

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Keywords: Myositis ossificans, Fibrodysplasia Ossificans Progressiva

How to cite this article:
Majmudar D K, Hathila N N, Vaishya K B, Sayani, Trivedi A V, Kalola J G. Fibrodysplasia ossificans progressiva. Indian J Radiol Imaging 2005;15:347-8

How to cite this URL:
Majmudar D K, Hathila N N, Vaishya K B, Sayani, Trivedi A V, Kalola J G. Fibrodysplasia ossificans progressiva. Indian J Radiol Imaging [serial online] 2005 [cited 2020 Nov 25];15:347-8. Available from: https://www.ijri.org/text.asp?2005/15/3/347/29152

   Introduction Top


Fibrodysplasia Ossificans Progressiva [1].is a rare, disabling disorder of unknown etiology, that leads to progressive ossification of striated muscles, tendons, ligaments, fascia and aponeuroses. The occurrence is usually sporadic, but it may be inherited as autosomal dominant with a wide range of expression [2].In 1692, Patin first described a case of young woman who `turned to wood` [3]. Synonyms are: Munchmeyer`s disease [4], Fibrogenesis Ossificans Progressiva, Myositis Ossificans Progressiva and Fibrositis Ossificans Progressiva. Only about 600 cases have been recorded in world literature [5].


   Case report Top


A 12 year old boy came to the hospital for a disability certificate, due to restricted mobility of his left arm and gradually increasing prominence at his back [Figure - 1].

Dorsolumbar spine anteroposterior radiograph was taken [Figure - 2], which revealed soft-tissue ossification overlying left mid-zone, which corresponds to the soft tissue swelling, noted at that part clinically. Another soft-tissue ossification is noted, over left side extending from paraspinal region at the level of tenth dorsal vertebra, to the upper shaft of left humerus. A well defined band of soft-tissue ossification is seen extending from right side of second lumbar vertebra to right sacro-iliac joint. To rule out associated digital anomalies, radiographs of both feet, antero-posterior view were taken [Figure - 3], which showed, hypoplasia of phalanges of both great toe and hallux valgus deformity.


   Discussion Top


The initial findings of this disease are usually seen in the first years of life with no gender predominance. The most common presenting symptom is torticollis, with painful, hot, edematous masses in the sternocliedomastoid muscles. Involvement then progresses to the remaining soft tissues of the neck, shoulders, spine, upper arms and later, in lower extremities. The extensive ossification leads to severely disabling restriction of joint movements. Involvement of intercostals muscles interferes with respiration. Wasting follows ossification of muscles of mastication.75% of patients have bilateral microdactyly of the first toe, with synostosis of the phalanges[6].Chemistry findings like serum alkaline phosphatase, blood chemistry, renal function and parathormone levels are all within normal limits[7].

The early pathophysiologic features reveal that the soft-tissue masses are composed of edema and inflammatory exudates, forming a mass of collagen, within which, the calcium salts are then deposited, forming an irregular mass of lamellar and woven bone. It has been suggested that the calcium salts are deposited due to lack of a circulating inhibitor [7], or due to a primary defect in the collagen [1]. Recently, linkage to type IV collagen and to excessive stimulation of bone morphogenic protein IV and its mRNA has been established [5].

The radiologic findings can be divided into two categories-digital anomalies and ectopic ossification. Microdactyly of the first toe is present in 75% of patients and in 5% of unaffected family members. It results from phalangeal shortening, synostosis or absence. Short first and fifth metacarpals, may be found. Hallux valgus is nearly always present. Other associated congenital anomalies include brachydactyly, clinodactyly, large epiphyses and broad femoral necks.

During the acute inflammatory stage, the lesions appear radiographically as soft-tissue masses. Linear and spheroid deposits of bone are seen as the process progresses to ossification. Eventually, columns of bone replace tendons, fascia and ligaments appearing as exostoses and are seen in the muscles. Ossification of the soft tissues of the spine leads to vertebral and apophyseal joint fusions, causing severe restriction of mobility. Early ossification of the neck soft-tissues results in premature fusion of the cervical spine growth centers with hypoplastic and ankylosed vertebral bodies. Conductive hearing loss is another common complication. Operative intervention or even biopsy can accelerate the disease process [5].The diagnosis is readily made when congenital digital anomalies are present in association with widespread soft-tissue ossification.

 
   References Top

1.Young JWR, Haney PJ: Case Report 314.Skeletal Radiology, 13:318, 1985.  Back to cited text no. 1    
2.Rogers JG, Geho WB: Fibrodysplasia Ossificans Progressiva. J Bone Joint Surg (Am) 61:909, 1979.  Back to cited text no. 2    
3.Mc Kusick VA: Heritable disorders of Connective Tissue,-ed 4.St.Louis, CV Mosby, 1972.  Back to cited text no. 3    
4.Resnick D, Niwayama G: Diagnosis of Bone and Joint Disorders, Philadelphia, WB Saunders, 1981.  Back to cited text no. 4    
5.Donald Resnick, Diagnosis of Bone and Joint Disorders, 4th ed, WB Saunders, 2002.  Back to cited text no. 5    
6.Terry R.Yochum, Lindsay J. Rowe: Essentials of Skeletal Radiology-2nd ed, Pennsylvania, Williams and Wilkins, 601-604, 1996.  Back to cited text no. 6    
7.Lutwak L: Myositis Ossificans Progressiva; mineral, metabolic and radioactive calcium studies of the effects of hormones. Am J Med 37:269, 1964.   Back to cited text no. 7    

Top
Correspondence Address:
D K Majmudar
2/B, Harikrupa Appt, B/H Ilaj Medical Stores, Opp. Central Bank Of India, Near Old Daxini Railway Crossing, Maninagar (East), Ahmedabad-380008, Gujarat-State
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.29152

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    Figures

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

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