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Published on: April 11, 2012
Fibrodysplasia ossificans progressiva. A survey of forty-two cases
Insights
Fibrodysplasia ossificans progressiva (FOP) in children is recognizable at birth with toe and thumb abnormalities. Early diagnosis of FOP is crucial to prevent injury-induced bone formation and manage physical disability.
Area of Science:
- Medical Genetics
- Pediatric Orthopedics
- Rare Diseases
Background:
- Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by progressive heterotopic ossification.
- Congenital malformations, including hallux valgus and short thumbs, are key indicators in newborns.
- Delayed diagnosis is common, hindering timely interventions and management.
Purpose of the Study:
- To highlight the importance of early recognition of FOP in pediatric patients.
- To emphasize the need for protective measures against injuries that can trigger ossification.
- To discuss the genetic basis and current treatment considerations for FOP.
Main Methods:
- Clinical observation of pediatric patients with FOP.
- Review of diagnostic criteria and congenital anomalies.
- Analysis of disease progression and impact of injuries.
Main Results:
- Characteristic congenital abnormalities, such as shortened great toe and short thumbs, aid in early diagnosis.
- Most FOP cases manifest symptoms by age four, but diagnosis is often delayed.
- Injuries can exacerbate FOP by initiating new bone formation.
- The axial skeleton is the primary site of onset and greatest involvement.
- Disodium etidronate (EHDP) has not yet demonstrated proven value in most patients.
- Evidence suggests most FOP cases result from dominant mutations.
Conclusions:
- Early identification of FOP is critical for preventing trauma-induced heterotopic ossification.
- Avoidance of biopsy and surgery is recommended due to potential complications.
- Most FOP cases appear to arise from new dominant mutations, impacting genetic counseling.
Abstract:
Fibrodysplasia ossificans progressiva in children can often be recognized at birth because of the presence of shortening of the great toe, characteristic hallux valgus, and short thumbs. The majority of patients have the onset of symptoms by the age of four years, but there is often a delay of many months before the diagnosis is made. Early recognition will allow protection of the child from injuries in which the damaged tissue will serve as a focus of calcification. Most patients with this condition are physically disabled. The site of onset and of greatest involvement is axial. Biopsy and surgery are best avoided. Use of EHDP (disodium ethane 1-hydroxy, 1-diphosphonate, or disodium etidronate) is not as yet of proved value in most patients. Data from this study support the concept that most cases of this lesion arise as dominant mutations.
