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My Phenotype speaks: please do not harm me with biopsy needle
Isha Saini1, Narendra Bagri1, Neerja Gupta1
1All India Institute of Medical Sciences, New Delhi, India.
Acta Reumatologica Portuguesa
|August 10, 2018
Summary
Fibrodysplasia ossificans progressiva, a rare genetic disorder, involves congenital bone defects and progressive heterotopic ossification. Early diagnosis is crucial to prevent harmful interventions like unnecessary biopsies.
Area of Science:
- Medical Genetics
- Orthopedic Surgery
- Radiology
Background:
- Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital skeletal malformations and progressive heterotopic ossification.
- Patients often experience misdiagnosis and undergo unnecessary invasive procedures before receiving the correct diagnosis.
Observation:
- A case report of a 4-year-old male patient with FOP.
- The patient underwent multiple unnecessary biopsies before diagnosis.
- Highlighted the importance of recognizing characteristic clinical and radiographic signs.
Findings:
- FOP diagnosis should be considered in cases with multifocal heterotopic bone formation.
- Valgus deformities of the big toes are a key indicator.
- Timely diagnosis prevents iatrogenic harm from misdirected interventions.
Implications:
- Emphasizes the need for increased awareness of FOP among clinicians.
- Promotes early and accurate diagnosis through characteristic signs.
- Aims to reduce misdiagnosis and improve patient outcomes by avoiding unnecessary invasive procedures.
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