Sarcoidosis with prevalent and severe joint localization: a case report

Area of Science:

• Rheumatology
• Pulmonology
• Dermatology

Background:

• Sarcoidosis is a systemic granulomatous disease of unknown origin, often affecting lungs and lymph nodes, but can involve skin, heart, eyes, and joints.
• Diagnosis typically involves excluding other granulomatous causes, including mycobacterial infections, and confirming with biopsy.
• This case presents an unusually aggressive form of sarcoidosis with initial involvement of small joints and mediastinal lymph nodes.

Observation:

• A 60-year-old male presented with severe bone and soft tissue involvement in hands and feet, leading to digital amputations.
• Despite surgery, lesions recurred in acral locations.
• PET/CT revealed radiotracer uptake in mediastinal lymph nodes; TBNA and bronchoalveolar lavage showed no infectious cause or significant CD4/CD8 ratio changes.

Findings:

• The patient was diagnosed with sarcoidosis based on clinical presentation, imaging, and exclusion of infections.
• Treatment with systemic corticosteroids resulted in an excellent clinical and radiological response.
• The case demonstrates sarcoidosis presenting without primary pulmonary manifestations.

Implications:

• Sarcoidosis can manifest with diverse and unpredictable organ involvement, including aggressive presentations in small joints.
• Clinicians must consider sarcoidosis in differential diagnoses for granulomatous conditions, even in the absence of typical lung findings.
• Recognizing varied presentations is key for timely diagnosis and effective management of sarcoidosis.