Please login or create an account. If you do not have access to this content, you will be shown a 30 second preview and licensing options.
- Presentation
Challenging Adult and Pediatric Autoimmune Connective Tissue Disease Cases: Pearls for Diagnosis and Management
Description
The presentation discusses two challenging cases of autoimmune connective tissue diseases, highlighting diagnostic and management pearls. The first case features a 56-year-old woman with painful skin papules and severe arthritis, leading to a diagnosis of multichentric reticular histiocytosis (MRH), a rare disorder associated with malignancies. Despite initial treatment with methotrexate and TNF inhibitors, her condition progressed until she responded significantly to the JAK inhibitor apatacitin. The second case examines a 48-year-old man with systemic sclerosis experiencing Raynaud's phenomenon, fingertip ulcers, and digital scarring. Management includes behavioral modifications and pharmacological interventions like calcium channel blockers and phosphodiesterase inhibitors. Additionally, botulinum toxin injections, facilitated by a specific technique, provide immediate pain relief and improved outcomes for patients with severe symptoms. Emphasizing the need for personalized approaches, the presentation provides insights into the complexities of diagnosing and managing these conditions, including the importance of considering underlying malignancies and exploring innovative treatments.
View moreConclusions
- Multicentric reticulohistiocytosis (MRH) is characterized by papulonodular skin eruptions and severe erosive arthritis, with a notable association with malignancies in 15-30% of cases.
- Negative rheumatoid factor supports the diagnosis of MRH, preventing misdiagnosis as rheumatoid arthritis.
- Traditional treatment for MRH starts with methotrexate, but JAK inhibitors like upadacitinib may be effective for refractory cases.
- Raynaud's phenomenon is closely associated with connective tissue diseases, particularly systemic sclerosis.
- Behavioral modifications for Raynaud's include keeping the core warm and avoiding vasoconstrictors, alongside first-line treatments like calcium channel blockers.
- Botulinum toxin injections offer immediate pain relief and improved outcomes in patients with systemic sclerosis-associated Raynaud's, especially those with tissue loss.
- Ongoing studies support the efficacy of botulinum toxin in treating Raynaud's syndrome, with a significant percentage of patients showing improvement after treatment.
- Overall, both MRH and Raynaud's phenomenon management require an individualized approach considering severity, associated conditions, and patient response.
- Ferreira MB, Sá N, Rocha SM, et al. Opera glass hands: the phenotype of arthritis mutilans.
- Campbell DA, Edwards NL. Multicentric reticulohistiocytosis: systemic macrophage disorder. Baillieres Clin Rheumatol 1991;5:301-19.
- Vleugels RA and Weinblatt. JAMA Dermatol.
- Kang S, Amagai M, Bruckner AL, Enk AH, Margolis DJ, McMichael AJ, Orringer JS. eds. Fitzpatrick's Dermatology, 9e. McGraw Hill; 2019.
- Rohrer TE, Beer K. Background to botulinum toxin. In: Carruthers A, Carruthers J (eds). Botulinum Toxin. Philadelphia: Saunders, 2005.
- Smith et al. Botulinum Toxin-A for the Treatment of Raynaud Syndrome. JAMA Derm 2011.
- Camila Villa-Ruiz MPH, Kylee JB Kus BS, Gabriela A. Cobos MD, Joseph Merola MD MMSc, Avery LaChance MD MPH, Ruth Ann Vleugels MD MPH MBA. OnabotulinumtoxinA for Systemic Sclerosis-associated Raynaud's Phenomenon: A Multi-Institutional Study on Accessibility and Effectiveness.