stone man syndrome/ Fibrodysplasia ossificans progressiva
Description
Patient: 10-year-old boy
o Signs:
Pain and sensitive lumps on the left arm, left hip, and back for six months
Gradual deterioration → walking difficulties, limited hip and shoulder mobility
Hallux valgus on both sides since birth
no siblings, no family history
no history of trauma at the beginning
o Findings from the examination:
• The left arm, hips, knees, shoulders, and back all have several painful, hard swellings.
• limited shoulder abduction (right: 10°, left: 35°)
• severe hip mobility limitation, making it impossible to walk or squat normally
• No other congenital anomalies or lymphadenopathy
o Examining:
Lab results: Typical
Images: Heterotopic ossification in the neck, shoulders, hips, knees, and spine
Due of expense, genetic testing is not done.
o Care & Development:
• After a surgical excision, the flare-up got worse.
• Family counseling and symptomatic treatment were completed.
• Avoid injuries, intramuscular injections, and overstretching as preventative measures.
Overview of Fibrodysplasia Ossificans Progressiva (FOP)Guy Patin first described it in 1692, using the phrase "turned to wood."
• The disease's nature is a rare, progressive, hereditary connective tissue illness that causes heterotopic ossification in ligaments, muscles, and tendons.
o Origin:
• From birth to the second decade of life; may be trauma-induced or spontaneous.
o A typical progression:
• begins in the neck and back and moves from the axial to the appendicular skeleton.
• causes immobility and joint fusion, which results in teenage wheelchair confinement.
• Problems include thoracic insufficiency leading to cardiopulmonary failure (the leading cause of death), scoliosis, and hearing loss (ossicle fusion).
o Diagnosis:
• Major criteria:
• Congenital great toe malformation
• Progressive ossification of heterotopic
• Consistent anatomical and temporal evelopment
o Confirmatory test:
• mutation in the ACVR1 gene (if available).
Tumors, ankylosing spondylitis, Still disease, Klippel-Feil syndrome, progressive osseous heteroplasia, etc. are examples of differential diagnosis.
Protocol
o Medical Interventions:
• Treatment for symptoms: In accordance with current guidelines, the patient received treatment that primarily addressed symptom control. Initially, corticosteroids were used to treat flare-ups, particularly when they affected the jaw, major joints, or submandibular region. Following the tapering of corticosteroids, NSAIDs or COX-2 inhibitors were utilized, possibly in conjunction with leukotriene inhibitors.
• In order to minimize the risk of causing more ossification, careful surgical attention should be given to the excision of ossified tissue only in cases of significant discomfort, joint restriction, or nerve compression, and only when the heterotopic bone is "ripe" (as determined by imaging and blood tests).
• hereditary counseling: Families received information on the hereditary and progressive character of the disease, even when financial limitations prevented genetic testing for the mutation in the ACVR1 gene.
Nursing interventions:
• Assessment and management of pain: Severity and localization of pain were regularly and thoroughly assessed, analgesics were given as directed, and side effects were tracked. Tracking of vital signs and pain reactions was done, particularly during flare-ups.
• Support for physical mobility: Mild, non-traumatic physical therapy centered on everyday life activities was employed to optimize range of motion. Because it may cause flare-ups of ossification, passive range of motion therapy was specifically avoided.
• Trauma prevention: The patient and their family received extensive counseling on how to prevent even mild trauma, such as avoiding intramuscular injections, rough play, or unintentional falls, as well as using cautious methods for routine dental care and vaccines (subcutaneous recommended).
• Psychosocial support and education: Family members were given information on how the disease progresses, how to prevent flare-ups, and how to manage everyday tasks. Given that both patients and caregivers may be impacted by chronic disabilities, emotional and psychological help was provided.
• Follow-up and monitoring: To monitor the course of the disease, modify treatment, and reevaluate nursing and medical strategies in response to symptom changes or new flare-ups, routine clinical and radiological monitoring was carried out.
Preventive and Quality of Life Measures:
• Flare-up prevention: To reduce the risk of a disease aggravation, strict adherence to avoiding elective invasive treatments, needless biopsies, and activities that could cause trauma was stressed.
• Prevention of respiratory infections:
Since respiratory infections are a major source of morbidity and mortality in FOP, subcutaneous influenza vaccination—rather than intramuscular—was advised to lower the risk of complications.
• Counseling and support for families: Through frequent counseling, families were empowered to better understand the disorder, risk factors, and effective preventive measures for better long-term results and patient quality of life.
Notes
For more details visit:https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-019-2297-z
