Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling genetic condition characterized by congenital skeletalmalformations and progressive heterotopic ossification in humans with no ethnic, racial, gender, or geographic predilection.Diagnosis of this condition can be made clinically in the presence of radiographic evidence of heterotopic ossification along withsymmetrical malformations of the great toes. The course of the disease is unpredictable and often progresses in the early childhoodand patients become immobile and confined to a wheelchair by their twenties. Survival beyond the third decade is uncommon. Wehereby report a case of FOP in a 7½-year-old girl

Kumar, Kurrey Virendra

Rakesh, Nahrel

English

Atharva Scientific Publications (E-Jounals)

Vol 4 | Issue 2 | Apr - Jun 2017 Indian J Child Health 270
Case Report
A case of fibrodysplasia ossificans progressiva with sternocleidomastoid muscle 
calcification
Kurrey Virendra Kumar, Nahrel Rakesh
From Department of Paediatrics, Government Medical College Rajnandgaon, Chhattisgarh, India
Correspondence to: Kurrey Virendra Kumar, Davra Colony, Pachpedi Naka, Raipur, Chattisgarh, India. E-mail: virendra_kurrey@yahoo.com
Received – 25 January 2017 Initial Review – 10 February 2017 Published Online – 18 April 2017
Fibrodysplasia ossificans progressiva (FOP) is also known as myositis ossificans (MO) progressiva (Stone man disease, Munchmeyer’s disease) is an exceptionally rare 
autosomal dominant disorder of connective tissue characterized 
by congenital malformations of the great toes and progressive 
heterotopic ossification in the characteristic extraskeletal sites [1]. 
The likely incidence is about 1 in 2 million with no ethnic, racial, 
gender, or geographic predilection. The diagnosis is based on the 
clinical findings and radiological demonstration of the skeletal 
malformations [2]. We hereby report a case of FOP in a 7½-year-
old girl from Chhattisgarh.
CASE REPORT
A 7½-year-old female child admitted in our hospital with 
complaint of inability to raise both shoulders. She had painless 
swelling over lower back on both the sides 6 months back 
which gradually regressed in size and disappeared. There was 
no history of trauma, systemic illness, or prior hospitalization. 
Perinatal history and family history were insignificant. She was 
well and active. Her growth and developmental milestones were 
appropriate for the age.
On examination, there was the drooping of the left shoulder. 
There was a single bony hard subcutaneous swelling overlying 
the right scapula. The swelling was non-tender, and no signs of 
inflammation were present. There was a significant restriction 
of abduction and internal rotation of both the shoulders. Partial 
restriction of all movements of the spine and restriction of flexion 
of the neck were also present. Physical examination showed 
stiffness in the entire spine, affecting from cervical to lumbar 
region. Affected muscle was stony hard in consistency, immobile, 
and painless to palpation and showed no inflammatory signs. 
Clinodactyly of both the little fingers and slightly shortening of 
both great toes were present. Her hearing assessment reveals a 
normal study.
Radiographs revealed hypoplasia of proximal phalanges of 
great toes bilaterally, ectopic ossifications in bilateral axillary 
region, both sides of the neck, and in the paravertebral muscles. 
There is calcification of entire right sternocleidomastoid muscle 
(Figs. 1 and 2). Laboratory tests such as blood cell count, 
serum calcium, alkaline phosphatase, parathormone, vitamin 
D3, C-reactive protein, rheumatoid factor, and complete urine 
examination showed normal values. Considering these results, 
and analyzing the signs and symptoms presented by the patient, 
the clinical diagnosis of FOP was made. At present, there is no 
effective prevention and curative treatment for this debilitating 
disease. Parents were counseled about the condition, and 
prognosis was explained.
DISCUSSION
MO is an extraosseous non-neoplastic growth of new bone. 
The two main recognized MO subtypes are (1) traumatic MO 
which occurs following trauma (uncommon in children), and 
(2) FOP. FOP is a rare, fatal, inherited disorder causing fibrosis 
and ossification of muscles, tendons, and ligaments [1,2]. 
Pathogenesis of traumatic MO still remains unclear. Most of the 
researchers believe that repetitive small traumas (not recognized 
by the patient), infection, inflammation, and ischemia may be the 
underlying factors that contribute to non-traumatic MO [3].
ABSTRACT
Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling genetic condition characterized by congenital skeletal 
malformations and progressive heterotopic ossification in humans with no ethnic, racial, gender, or geographic predilection. 
Diagnosis of this condition can be made clinically in the presence of radiographic evidence of heterotopic ossification along with 
symmetrical malformations of the great toes. The course of the disease is unpredictable and often progresses in the early childhood 
and patients become immobile and confined to a wheelchair by their twenties. Survival beyond the third decade is uncommon. We 
hereby report a case of FOP in a 7½-year-old girl.
Key words: Fibrodysplasia ossificans progressiva, Heterotophic calcification, Myositis ossificans progressive
Vol 4 | Issue 2 | Apr - Jun 2017 Indian J Child Health 271
Kumar and Rakesh Fibrodysplasia ossificance progressiva: A rare case
FOP occurs in approximately 1 in 2 million people [3]. FOP 
is a genetic disease inherited as autosomal dominant disorder 
in most of the cases while remaining cases are caused by a 
spontaneous new mutation in the ACVR1 gene. This mutation 
causes a deregulation of the bone morphogenetic protein signaling 
pathway [4,5]. Previous studies have demonstrated that there was 
no ethnic, racial, gender or geographic predisposition for the 
development of the disease [6,7].
Recognition of the most characteristic deformity, microdactyly 
of both halluces along with rapidly changing swellings, helps 
to make a diagnosis. These begin during the first decade of life 
and progress until being ossified. Swellings typically affect neck 
and upper back making them stiff, as in our case. The diagnosis 
of FOP is therefore based on history, clinical, and radiological 
findings.
The bilateral great toe anomaly present from birth reported 
in 79-100% of patients. Deafness has been reported in up to 
one-fourth of the cases. Malignancy is the most common 
misdiagnosis with up to 1 in 3 cases being mistaken as a 
tumor [4]. The soft-tissue trauma can induce rapid ossification 
of the affected area; therefore, biopsy of calcified nodules is to 
be avoided if the diagnosis of FOP is clear on the clinical and 
radiological grounds.
Soft-tissue ossifications are the characteristic radiographic 
features of FOP (Fig. 3). Bone scintigraphy with 99mTc-MDP 
may demonstrate the heterotopic ossification early and aid in 
the assessment of the extent and progression of the disease [8]. 
Laboratory analysis and biochemical values are usually found to 
be normal as in our case although we could not carry out bone 
scans and mutation study. Our case demonstrates the classical 
presentation and features of FOP. No effective medical therapy 
is known for FOP; bisphosphonates and corticosteroids are only 
drugs which have some benefit during acute phase [9]. Gene 
therapy may have a certain role. The course of the disease is 
unpredictable, and it often progresses in early childhood, and 
patients become immobile and confined to a wheelchair by their 
twenties. Survival beyond the third decade is uncommon as 
severe restriction of the chest wall results in cardiorespiratory 
failure.
CONCLUSION
FOP is very uncommon hereditary disorder and must be 
considered in those cases where extraosseous non-neoplastic 
new bone formation is seen. Early diagnosis of FOP is 
important to minimize the trauma, painful flare up, and genetic 
counseling.
REFERENCES
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Figure 1: Prominent nodule on back
Figure 2: Sternocleidomastoid muscle calcification
Figure 3: Heterotopic calcification
Vol 4 | Issue 2 | Apr - Jun 2017 Indian J Child Health 272
Kumar and Rakesh Fibrodysplasia ossificance progressiva: A rare case
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Funding: None; Conflict of Interest: None Stated.
How to cite this article: Kumar KV, Rakesh N. A case of fibrodysplasia 
ossificans progressiva with sternocleidomastoid muscle calcification. Indian 
J Child Health. 2017; 4(2):270-272.
9. Glaser DL, Kaplan FS. Treatment considerations for the management 
of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab. 
2005;3:243-50.


A case of fibrodysplasia ossificans progressiva with sternocleidomastoid muscle calcification

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A case of fibrodysplasia ossificans progressiva with sternocleidomastoid muscle calcification

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