Internal Medicine, Pediatrics
Extremely Unusual Case of Disabling Soft Tissue Ossification in Pediatric Patient
1Kebede Gofer Gebretsadik, 2Robert Mulbah, 3Mogus Kebede Getahun
1John F. Kennedy Hospital Department of Radiology
2John F. Kennedy Hospital Department of Orthopedics
3Jackson K. Doe Hospital, Department of Pathology
Corresponding Author’s email: kgofer1986@gmail.com
Published At January 10, 2025 | ISSN 2521-5124
Abstract
Debilitating ossifications in soft tissue is an extremely rare phenomenon in literature. Fibrodysplasia Ossificans Progressiva is a very unusual genetic disorder of Extra-Skeletal Bone formation mostly within muscle, tendons and fascia. Clinically it presents with extensive heterotopic ossification in soft tissue and malformations in greater Toe and Thumb. During the earlier stages, clinical presentations may mimic Myositis Ossificans, Scleroderma, Juvenile Fibromatosis, soft tissue sarcoma. But during the late phase, the differential Diagnosis is limited. Minor trauma and interventions will exacerbate the disease process and is not recommended.
Case presentation:
A case of 10 years old female patient who visited John. F. Kennedy Hospital Imaging Center, Monrovia, Liberia on April 4th, 2021, with a complaint of progressive anterior chest and posterior chest deformity and swelling in the back for more than three years. She has no past medical illness. No history of trauma recorded. Her symptoms were waxing and waning initially but become progressive six months before her presentation. On physical examination she had hard swelling on her back and anterior chest which has markedly affected the movement of her both arms. She also has short thumb and toe with deformity.
Plain CT-scan of the chest, abdomen and pelvis showed that she had extensive dystrophic ossifications in paraspinal area which had formed a pseudo-articulation with ossifications arising from both humerus along the postero-lateral aspect. There were also branching soft tissue ossifications from both sides of the anterior chest within the substance of the pectoralis muscles.
Conclusion and Limitation: Diagnosis of extremely rare genetic disorders is a challenge in developing countries where there is limitation of genetic studies, laboratory services and poverty. The introduction of CT scan at our imaging suite had greater impact in making our Radiological Impression.
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Sign in to your accountSearch Keywords
Soft tissue ossification, Fibrodysplasia Ossificans Progressiva, FOP, genetic disorder, progressive bone formation
Supplementary Material
Extremely Unusual Case of Disabling Soft Tissue Ossification in Pediatric Patient ( Extremely Unusual Case of Disabling Soft Tissue Ossification in Pediatric Patient_2025-01-03_18-36-20.pdf )