scholarly journals Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity

1970 ◽  
Vol 28 (4) ◽  
Author(s):  
Daniel Solomon ◽  
Iyasu Wakjira ◽  
Daniel Hailu ◽  
Yocabel Gorfy
Keyword(s):  
Heterotopic Ossification ◽  
Myositis Ossificans ◽  
Needle Aspiration ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Great Toe ◽  
Connective Tissues ◽  
Genetic Condition ◽  
Skeletal Malformations ◽  
Ectopic Bone ◽  
Myositis Ossificans Progressiva

BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), also known as Myositis ossificans progressiva or Munchmeyer's disease, is an extremely rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO). The disease is characterized by congenital skeletal anomalies and progressive ectopic bone formation in connective tissues such as ligaments, muscles and tendons. The disease has an incidence of about 1 in 2 million population.CASE DETAILS: We report a case of a 2-year and 8-month old male child with an initial diagnosis of soft tissue sarcoma based on fine needle aspiration (FNAC) of neck swelling.CONCLUSION: Fibroplasia ossificans progressive (FOP) characteristically manifests with bilateral malformation of the great toe and progressive heterotopic ossification (HO). Clinicians and radiologists should be aware of these to prevent permanent disability.KEYWORDS: Fibroplasia ossificans progressive, myositis ossificans

scholarly journals Clinical Aspects and Current Therapeutic Approaches for FOP

Biomedicines ◽  
2020 ◽  
Vol 8 (9) ◽  
pp. 325
Author(s):  
Hiroshi Kitoh
Keyword(s):  
Heterotopic Ossification ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Clinical Aspects ◽  
Type I ◽  
Gene Encoding ◽  
Neck Stiffness ◽  
Skeletal Malformations ◽  
Morphogenetic Protein ◽  
Heritable Disorder ◽  
Ossification Centers

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare heritable disorder of connective tissues characterized by progressive heterotopic ossification in various skeletal sites. It is caused by gain-of-function mutations in the gene encoding activin A receptor type I (ACVR1)/activin-like kinase 2 (ALK2), a bone morphogenetic protein (BMP) type I receptor. Heterotopic ossification is usually progressive leading to severe deformities in the trunk and extremities. Early clinical diagnosis is important to prevent unnecessary iatrogenic harm or trauma. Clinicians should become aware of early detectable skeletal malformations, including great toe deformities, shortened thumb, neck stiffness associated with hypertrophy of the posterior elements of the cervical spine, multiple ossification centers in the calcaneus, and osteochondroma-like lesions of the long bones. Although there is presently no definitive medical treatment to prevent, stop or reverse heterotopic ossification in FOP, exciting advances of novel pharmacological drugs focusing on target inhibition of the activated ACVR1 receptor, including palovarotene, REGN 2477, rapamycin, and saracatinib, have developed and are currently in clinical trials.

scholarly journals Fibrodysplasia Ossificans Progressiva in a 23-Year-Old Male

2014 ◽  
Vol 4 (2) ◽  
pp. 126-129
Author(s):  
Ahmed Al-Mustaque ◽  
Ahmed Al Montasir ◽  
Mashah Binte Amin
Keyword(s):  
Severe Disability ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Striated Muscles ◽  
Inherited Disease ◽  
Connective Tissues ◽  
Skeletal Malformations ◽  
Radiologic Characteristics

Fibrodysplasia Ossificans Progressiva (FOP) is an inherited disease in which progressive ossification of striated muscles, tendons, ligaments and other connective tissues forming bridges of extra bones across the joints leads to severe disability and there are associated characteristic congenital skeletal malformations. FOP is also known as Stoneman's syndrome. The case we report here is a 23-year-old male with the clinical and radiologic characteristics of FOP. DOI: http://dx.doi.org/10.3329/jemc.v4i2.19682 J Enam Med Col 2014; 4(2): 126-129

scholarly journals Heterotopic ossification (myositis ossificans progressiva): A condition interfering with rheumatic disease

2017 ◽  
Vol 4 (1) ◽  
pp. 79-80
Author(s):  
Gulsen Isikli ◽  
Lutfi Akyol ◽  
Sibel Semirgin Ucak ◽  
Kerim Aslan ◽  
Metin Ozgen ◽  
...  
Keyword(s):  
Rheumatic Disease ◽  
Heterotopic Ossification ◽  
Myositis Ossificans ◽  
Myositis Ossificans Progressiva

scholarly journals Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation inACVR1Gene: A Case Report and Review of Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Mohammad Al-Haggar ◽  
Nermin Ahmad ◽  
Sohier Yahia ◽  
Amany Shams ◽  
Bothina Hasaneen ◽  
...  
Keyword(s):  
Neck Region ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Heterozygous Mutation ◽  
First Year ◽  
Common Mutation ◽  
New Bone Formation ◽  
Connective Tissues ◽  
Skeletal Malformations ◽  
Morphogenetic Protein

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth hallmark for the disease. Most of the isolated classic cases of FOP showed heterozygous mutation in theACVR1gene on chromosome 2q23 that encodes a bone morphogenetic protein BMP (ALK2). The most common mutation is (c.617G > A) leading to the amino acid substitution of arginine by histidine (p.Arg206His). We currently report on an Egyptian infant with a sporadic classic FOP in whom c.617G > A mutation had been documented. The patient presented with the unique congenital malformation of big toe and radiological evidence of heterotopic ossification in the back muscles. The triggering trauma was related to the infant's head, however; neither neck region nor sites of routine intramuscular vaccination given during the first year showed any ossifications. Characterization of the big toe malformation is detailed to serve as an early diagnostic marker for this rare disabling disease.

scholarly journals Early Recognition of Fibrodysplasia Ossificans Progressiva-Important For the Clinician

2016 ◽  
Vol 54 (202) ◽  
pp. 91-93 ◽  
Author(s):  
Ankur Singh ◽  
Gaurav Pradhan ◽  
Chandravati Kumari ◽  
Seema Kapoor
Keyword(s):  
Early Diagnosis ◽  
Heterotopic Ossification ◽  
Clinical Diagnosis ◽  
Early Recognition ◽  
Correct Diagnosis ◽  
Valgus Deformity ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Great Toe ◽  
Diagnostic Clue ◽  
Future Management

Fibrodysplasia ossificans progressiva is a rare disorder of heterotopic ossification. Procedures like biopsy and surgery are known to be aggravating factors in promoting heterotopic ossification Clues to clinical diagnosis may therefore be a great advantage to treating orthopedician. Valgus deformity of great toe is an important diagnostic clue for treating physicians and thus aids in preventing the clinicians from subjecting the patients to unnecessary invasive and traumatic procedures. Hence clinical clues to early diagnosis are important in establishing the correct diagnosis and directing future management. Keywords: fibrodysplasia ossificans progressiva; valgus deformity of greater toe. | PubMed

scholarly journals Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men

Biomedicines ◽  
2020 ◽  
Vol 8 (12) ◽  
pp. 611
Author(s):  
Serena Cappato ◽  
Riccardo Gamberale ◽  
Renata Bocciardi ◽  
Silvia Brunelli
Keyword(s):  
Bone Formation ◽  
Heterotopic Ossification ◽  
Subcutaneous Tissue ◽  
Fibrous Tissue ◽  
Repair Process ◽  
The Body ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Molecular Features ◽  
Ectopic Bone ◽  
Genetically Determined

Heterotopic ossification is defined as an aberrant formation of bone in extraskeletal soft tissue, for which both genetic and acquired conditions are known. This pathologic process may occur in many different sites such as the skin, subcutaneous tissue, skeletal muscle and fibrous tissue adjacent to joints, ligaments, walls of blood vessels, mesentery and other. The clinical spectrum of this disorder is wide: lesions may range from small foci of ossification to massive deposits of bone throughout the body, typical of the progressive genetically determined conditions such as fibrodysplasia ossificans progressiva, to mention one of the most severe and disabling forms. The ectopic bone formation may be regarded as a failed tissue repair process in response to a variety of triggers and evolving towards bone formation through a multistage differentiation program, with several steps common to different clinical presentations and distinctive features. In this review, we aim at providing a comprehensive view of the genetic and acquired heterotopic ossification disorders by detailing the clinical and molecular features underlying the different human conditions in comparison with the corresponding, currently available mouse models.

Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) treatment with disodium etidronate

1979 ◽  
Vol 94 (4) ◽  
pp. 679-680 ◽  
Author(s):  
Judith G. Hall ◽  
Jane G. Schaller ◽  
Nancy G. Worsham ◽  
Morris R. Horning ◽  
Lynn T. Staheli
Keyword(s):  
Myositis Ossificans ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Myositis Ossificans Progressiva

scholarly journals Fibrodysplasia Ossificans Progressiva: A Case Report

2018 ◽  
Vol 16 (2) ◽  
pp. 245-247
Author(s):  
Sudeep Acharya ◽  
Sandhya Joshi ◽  
Rajib Chaulagain
Keyword(s):  
Heterotopic Ossification ◽  
Skeletal Muscles ◽  
Myositis Ossificans ◽  
Genetic Disorder ◽  
Later Life ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Permanent Disability ◽  
Radiological Features ◽  
The Individual ◽  
Fibrodysplasia Ossificans Progressive

Fibrodysplasia ossificans progressiva is a genetic disorder of the connective tissue differentiation characterized by congenital malformation of the big toes and progressive heterotopic ossification in the extra skeletal tissues like tendons, ligaments, fascia and skeletal muscles leading to permanent disability. The prevalence is one in two million people. During childhood, it may be asymptomatic but in later life, progressive stiffness of major joints renders movement of the individual impossible. Currently, there is no effective treatment for this debilitating disease. Here, we present a case of 27 year old male with clinical and radiological features of fibrodysplasia ossificans progressiva.Keywords: Fibrodysplasia ossificans progressive; heterotopic ossification; myositis ossificans; myositis ossificans progressive.

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