Challenging Adult and Pediatric Autoimmune Connective Tissue Disease Cases: Pearls for Diagnosis and Management

The session discusses challenging cases of autoimmune connective tissue diseases, starting with a 38-year-old woman showing signs of systemic sclerosis, particularly the "puffy hand" sign, early edema, and features like Raynaud's phenomenon and nail fold capillary changes. It underscores the importance of early diagnosis and intervention with treatments like mycophenolate, which has been shown to improve skin involvement and lung disease associated with systemic sclerosis. The presentation transitions to a second case of a 52-year-old man exhibiting skin tightening indicative of eosinophilic fasciitis (EF), which differs from systemic sclerosis, notably by sparing the distal digits and lacking Raynaud's and nail changes. Findings such as the groove sign and seat belt sign support the EF diagnosis, which can be confirmed by MRI as a non-invasive method. Treatment for EF typically starts with systemic steroids, often combined with methotrexate or mycophenolate for better outcomes. Clinical pearls from both cases emphasize the critical need for early recognition and aggressive treatment to improve patient mobility and quality of life.