Fibrodysplasia Ossificans Progressiva in a Four year Old Child
Mayur Kardile1, Sidhartha Nayak1, H S Nagaraja1
1Dept Of Orthopedics, MKCG Medical College, Berhampur, Orissa 760004.
Insights
This case study highlights Fibrodysplasia Ossificans Progressiva (FOP), a rare genetic disorder causing bone formation in soft tissues. Early clinical and radiological diagnosis in a young child is crucial for managing this progressive condition.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder with an incidence of 1 in 2 million.
- Characterized by progressive heterotopic ossification of muscles, tendons, and ligaments.
- This report details a case in a young male from a tribal family in Orissa.
Observation:
- A 4-year-old male presented with progressive neck stiffness and subcutaneous nodules.
- Previous indigenous treatments and bone setter manipulations were sought.
- The child exhibited widespread ossification, stiffness in the neck, shoulders, and back, upper tibial osteochondromas, scalp nodules, and bilateral great toe valgus deformities.
Findings:
- Clinical and radiological examination confirmed a diagnosis of FOP.
- The case illustrates the typical presentation of FOP in a pediatric patient.
- Valgus deformities of the great toes were a key diagnostic feature.
Implications:
- Highlights the importance of considering FOP in pediatric cases with heterotopic ossification and specific deformities.
- Emphasizes the need for further research due to unclear treatment guidelines for this rare condition.
- Suggests early diagnosis through clinical and radiological assessment is vital for patient management.
Introduction:
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disoder characterized by bone formation within muscles tendons and ligaments. It has an incidence of one in two million. We hereby report a case of FOP in a four year male child from a tribal family in orissa.
Case Report:
4 yr old male child presented with gradual development of stiffness of neck and hard nodules on his body for which his parents had sought all sort of indegenous treatment and manipulations by traditional bone setters. Patient returned to our hospital at the age of four years with widespread ossification and stiffness of neck, shoulders and back. He also had upper tibial osteochondromas and scalp nodules and valgus deformity of bilateral great toes. A diagnosis of FOP was made on clinical and radiological examination.
Conclusion:
Though rare, diagnosis of Myositis ossificans progressiva should be considered in a child with heterotopic bone formation and valgus deformities of great toes. Being a rare condition, treatment guidelines are not clear and this condition need further research.
More Related Videos
06:53A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies
Published on: July 4, 2017
09:26An Efficient and Reproducible Protocol for Distraction Osteogenesis in a Rat Model Leading to a Functional Regenerated Femur
Published on: October 23, 2017
Related Concept Videos
01:24Bone Formation by Endochondral Ossification
01:29Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
01:29Bone Formation by Intramembranous Ossification
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into ...
01:09Changes in the Appendicular Skeleton with Age
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
01:27Fractures: Bone Repair
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the...
01:09Spongy Bone
Spongy bone is more porous, and less dense compared to compact bone. It is composed of concentric lamellae that are arranged irregularly to form the trabecular network. In some bones, the spaces between trabeculae contain red marrow, where...