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

The presentation discusses the management of challenging cases of autoimmune connective tissue diseases, specifically focusing on a 48-year-old woman with limited cystic sclerosis who suffered from severe Raynaud's phenomenon leading to fingertip ulcers and scarring. Emphasizing the need for thorough evaluations in patients presenting with Raynaud's, the speaker explores treatment options ranging from behavioral modifications to systemic therapies. Calcium channel blockers are typically used, but phosphodiesterase inhibitors like sildenafil and tadalafil are highlighted for their efficacy, especially as they become more accessible. The innovative use of botulinum toxin injections is discussed, showing promise in alleviating symptoms and improving outcomes in patients with advanced digital ulcers. Additionally, in cases where outpatient treatments fail, intravenous iloprost, a potent vasodilator, offers an inpatient option for severe Raynaud's and ulcer healing. The presentation also examines a separate case of multicentric reticulo histiocytosis (MRH), marked by distinct skin eruptions and joint pain. A detailed treatment course including prednisone, hydroxychloroquine, and updates on the use of a Janus kinase (JAK) inhibitor, upadacitinib, shows significant improvement in the patient's condition. The session emphasizes the need for innovative therapies in the face of refractory autoimmune diseases.