Young man, 20 years old with intense myoarticular pain mostly at muscles insertions and limited range of motion (active and passive) of the limbs.
On physical examination presented semi-flexion position of the arms and legs with joint stiffness, skin darkened patches, hair loss, burning pain and symmetric skin hardening in the upper and lower limbs (figures 1 and 2). -Personal background: Hemolytic Uremic Syndrome at 19 years old with cerebral ischemic involvement (documented by contrast enhanced MRI), due to 19 gene mutation with factor H deficiency. Chronic renal failure on hemodialysis. -Laboratory tests: hypercalcemia; Normal PTH, TRAP, CPK and aldolase. Negative FAN, anti-ADN, anti-SCL70 and latex. ACE within normal values and ESR 36 mm/h. CT examination was performed (figures 3 to 9).
There are linear and confluent calcifications in soft tissues of extremities, paraspinal muscles and psoas with flexion contractures and evidence of renal disease manifested as thinning of renal parenchyma. A skin biopsy was performed (figure 10).
First identified in 1997, Nephrogenic Systemic Fibrosis (NSF) has been reported only in patients with acute or chronic severe renal insufficiency or patients with renal dysfunction due to the hepato-renal syndrome. Since the description of NSF (previously labeled nephrogenic fibrosing dermopathy) more than 200 patients have been reported. Patients with this condition develop fibrosis of the skin and connective tissues throughout their body. The face is typically spared. The skin thickening may inhibit flexion and extension of joints resulting in contractures. In addition, patients may develop widespread fibrosis of other organs.
A skin biopsy is necessary to confirm the diagnosis. The condition may be debilitating or cause death often from sepsis as a complication of immobility or from hypoventilation if lung and diaphragm involvement occurs. Its cause is unknown and there is no consistently successful treatment. Improvement has been reported following recovery of renal function, either spontaneously, after renal transplantation, or with immunomodulatory treatments including extracorporeal photophoresis and phototherapy
Histologically, skin lesions demonstrate dermal thickening with deep penetration of
collagen bundles into the superficial fascia. Staining for dermal mucin is positive. Dermal cells expressing CD34 support the concept of a bone marrow–derived “circulating fibrocyte” playing a pathogenic role. A combination of pathologic and laboratory features distinguishes NSF from similar conditions, including systemic sclerosis, scleromyxoedema, and eosinophilic vasculitis. These features include the absence of anti-scl70 and anticentromere antibodies, as well as normal serum electrophoresis. Vascular disease, thrombotic events, chronic liver disease, and the presence of antiphospholipid antibodies have been associated with NSF although not implicated in its pathogenesis.
Since 1998, the increasing use of gadolinium-enhanced magnetic resonance imaging in the established renal failure population (ERF) to avoid exposure to iodinated contrast material or as pretransplantation investigation parallels the description of patients with NSF. Collidge et al.1 found a positive association between gadolinium-based contrast agent administration and development of NSF in the ERF population, as well as a positive association between cumulative dose of gadodiamide used and dosing events. It is mandatory for every radiologist to become familiar with this entity to avoid putting susceptible populations at risk.
Nephrogenic Systemic Fibrosis (NSF)
The patient is a 20-year-old young male with severe muscle and joint pain, primarily at the sites where muscles attach, accompanied by restricted range of motion (both active and passive) in the limbs. Based on the provided CT and related images, the following key findings are observed:
Considering the clinical symptoms (muscle-joint stiffness, pain, restricted mobility), imaging findings (widespread soft tissue fibrosis or calcification), skin biopsy results (fibrosis and mucin deposition in the dermis and superficial fascia), and the background of renal insufficiency, the following diagnoses or differential diagnoses should be considered:
For this patient:
Based on these features, the most likely final diagnosis is “Nephrogenic Systemic Fibrosis (NSF).”
The goal of rehabilitation is to reduce joint and soft tissue contractures, maintain muscle strength and function, and improve quality of life. A gradual exercise principle (FITT-VP) should be applied, based on the patient’s condition, renal function, cardiopulmonary function, and tolerance to therapy.
For this patient, the main priority is to prevent new soft tissue injuries and further loss of joint mobility. A thorough assessment and warm-up should be performed before starting rehabilitation training to reduce pain and minimize the risk of injury caused by contractures and adhesions.
Safety Considerations: As the patient has renal insufficiency, particular attention should be paid to fluid and electrolyte balance after exercise, avoiding high-intensity workouts, and closely monitoring the progression of joint and skin lesions.
Disclaimer:
This report provides a reference-based medical analysis derived from the materials provided and is not a substitute for an in-person consultation or a professional doctor’s diagnosis and treatment plan. If you have any doubts or your condition worsens, it is recommended that you seek prompt medical attention from a specialized hospital department.
Nephrogenic Systemic Fibrosis (NSF)
