Three-dimensional reconstructed CT images of the patient’s pelvis and hip joints show soft tissue calcification around the joints. Photo: Supplied
The hospital announced on Monday that the diagnosis helped the patient avoid an unnecessary surgery and reduced the risk of worsening her condition.
The girl was initially admitted with prolonged joint stiffness and limited mobility following a minor fall while learning to ride a bicycle.
Her first symptoms included localized swelling, numbness, and discomfort in the left buttock area, leading to joint stiffness and restricted movement.
Over the following two years, the condition progressively spread, causing stiffness in the spine, neck, and both shoulders.
As a result, she experienced increasing difficulty walking and severe limitations in daily activities.
A particular challenge in diagnosing the case was that the patient did not have a malformed big toe, a classic sign found in most people with FOP.
Because of this, diagnosis proved difficult, and she had previously been scheduled for surgery to improve mobility in her hip joint.
After being referred to City Children’s Hospital, doctors conducted a comprehensive evaluation using medical imaging and genetic testing.
The tests identified a disease-causing mutation in the ACVR1 gene, confirming a diagnosis of atypical FOP.
Based on the findings, the treatment team decided not to proceed with the previously planned surgery.
For patients with FOP, procedures that cause soft tissue injury, such as surgery, biopsies, or injections into affected areas, can trigger inflammatory responses and accelerate abnormal bone formation, potentially worsening the condition.
The hospital said that FOP is an extremely rare inherited disorder, with an estimated prevalence of about one in two million people worldwide.
Doctors advised parents to seek medical attention if children experience recurrent soft tissue swelling, hard lumps beneath the skin, progressive joint stiffness, or restricted movement, especially after even minor injuries.
They emphasized that FOP should still be considered even when a child does not have a malformed big toe.
According to the doctors, early diagnosis, multidisciplinary collaboration, and genetic testing play a crucial role in avoiding unnecessary interventions, reducing the risk of disease flare-ups, and preserving patients’ mobility and quality of life as much as possible.
