Nephrogenic systemic fibrosis presenting as myopathy: a case report with histopathologic correlation

Area of Science:

• Nephrology
• Dermatology
• Pathology

Background:

• Nephrogenic systemic fibrosis (NSF) is a fibrosing disorder primarily affecting the skin.
• It is strongly associated with renal insufficiency and exposure to gadolinium-based contrast agents (GBCAs).
• The typical presentation involves skin thickening, erythema, and joint contractures.

Observation:

• A case study of a 64-year-old male patient with acute renal failure exposed to gadolinium contrast is presented.
• The patient later developed progressive limb stiffness, proximal muscle weakness, and a woody texture of the muscles.
• Skin findings were minimal, deviating from the classic NSF presentation.

Findings:

• Muscle biopsy revealed a chronic non-inflammatory fibrosing myopathy.
• Specific CD34+ fibroblasts, previously identified in NSF dermopathy, were also found in the fibrotic muscle and fascia.
• This suggests a potential systemic fibrotic process extending beyond the skin.

Implications:

• Nephrogenic systemic fibrosis may present as a progressive myopathy with subtle or absent skin manifestations.
• This case expands the understanding of NSF's clinical spectrum.
• Early recognition of myopathic symptoms in at-risk patients is crucial for diagnosis and management.