Stone man syndrome: a rare case reported
Dr Zakir Ali Shah at the Department of Trauma and Orthopedic, Rashid Hospital, Dubai, United Arab Emirates and colleagues have reported a rare case of stone man syndrome. The case has appeared in the Journal of Medical Case Reports.
Stone man syndrome or Fibrodysplasia ossificans progressiva is a very rare autosomal dominant disorder and disabling syndrome characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. Fibrodysplasia ossificans progressiva has a worldwide prevalence of about 1 in 2 million births. Nearly 90% of patients with fibrodysplasia ossificans progressiva are misdiagnosed and mismanaged and thus undergo unnecessary interventions. So far, the number of reported existing cases worldwide is about 700.
According to history a 10-year-old Pakistani boy presented to our clinic in Pakistan with a 6-month history of pain and tender masses on the back, left arm, and left hip. The pain was insidious in onset and gradually worsened, causing difficulty in walking and decreased range of motion of shoulders and hips.
On examination, the patient had multiple swellings on his back, right shoulder, left hip, and left knee. Another hard mass was seen on the left arm, near the anterior fold of the armpit, and extending to the whole of the biceps. The mass was painful, but no warmth or inflammation was noted (Fig. 1). Palpation revealed tenderness of all visible masses and stiffness of all abdominal and paraspinal muscles. Abduction of both shoulders was restricted to 35 degrees on the left side and 10 degrees on the right side (Fig. 1).
The patient had bilateral hallux valgus but no other abnormality of any other toes (Fig. 2).
He was not able to walk and squat in the normal posture and had a severe restricted range of motion of the left hip (Fig. 3).
No appreciable lymphadenopathy was noted. The boy's parents did not show any similar abnormalities in their physical examination.
Results of laboratory studies were normal. Genetic analysis testing could not be performed because of the parents' financial issues. Conventional radiographs showed heterotopic ossification involving the spine, neck, shoulders, hips, and right knee (Figs. 4 and 5).
No history of local trauma was found at the beginning of the disease. The patient had no siblings and no family history of any disease.
Regarding the patient's past history, his parents reported surgical intervention and excision of left hip ossification followed by temporary improvement in range of motion of the left hip. Regular follow-up was done at 2-month intervals, and follow-up x-ray showed exacerbation (flare-up) of ossification and again a severe restricted range of motion of the left hip (Fig. 6).
The patient was initiated on symptomatic treatment, and his family was educated about the disease. Counseling was done, and the prevention of trivial trauma was advised. Recently, in follow-up, it was noticed that his quality of life was improved over a previous visit. The patient will be followed clinically and radiologically.
For more details click on the link: https://doi.org/10.1186/s13256-019-2297-z