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
Description
The presentation discusses two complex cases of autoimmune connective tissue diseases. The first case involves a 19-year-old female with lower extremity edema and rapidly evolving painful plaques. Despite initial treatment with high-dose steroids and TNF alpha inhibitors, her condition progressed, leading to a diagnosis of A1 antitrypsin deficiency revealed by low A1 levels. A1 antitrypsin paniculitis, a rare condition affecting less than 1% of A1 antitrypsin disease patients, was diagnosed, and enzyme replacement therapy resulted in dramatic improvement. The second case concerns a woman in her 50s diagnosed with generalized morphea after initial misdiagnosis and treatment. Despite aggressive therapies including high-dose steroids, mycophenolic acid, and rituximab, she continued to develop new plaques with significant functional impairment. The treatment plan was adjusted to include monthly infusions of tocilizumab, which resulted in substantial improvement in her condition. These cases underline the importance of recognizing atypical presentations and exploring various treatment options for effective management in autoimmune connective tissue diseases.
View moreConclusions
- A1 antitrypsin deficiency can present as paniculitis, often diagnosed earlier than liver or lung disease manifestations.
- A1 antitrypsin associated paniculitis is rarer in the general population, with the ZZ genotype being the most severe.
- Dense neutrophilic inflammation is the predominant pathological feature observed in cases of A1 antitrypsin associated paniculitis.
- Dapsone can provide partial relief but is often insufficient for controlling disease progression.
- Enzyme replacement therapy with pooled A1 proteinase inhibitors shows significant effectiveness in treating A1 antitrypsin deficiency associated paniculitis.
- Recognition of A1 antitrypsin associated paniculitis should be on the radar of dermatologists, particularly in patients presenting with skin issues without obvious lung or liver involvement.
- Morphia is documented as a challenging condition to treat, with multiple therapies needed for significant improvement, including tocilizumab which shows promise for refractory cases.
- Franciosi AN, Ralph J, et al. J Am Acad Dermatol. 87(4):825-832
- Blanco I, Lipsker D, et al. Br J Dermatol. 174(4): 753-762
- Dinesh Khanna, Celia J F Lin, Daniel E Furst, Jonathan Goldin, Grace Kim, Masataka Kuwana, Yannick Allanore, Marco Matucci-Cerinic, Oliver Distler, Yoshihito Shima, Jacob M van Laar, Helen Spotswood, Bridget Wagner, Jeffrey Siegel, Angelika Jahreis *, Christopher P Denton *. Tocilizumab in systemic sclerosis: a randomised, double-blind, placebo-controlled, phase 3 trial
- G. Martini1, S. Campus2, R. Bernd3, G. Boscarol4, A. Meneghel5, F. Zulian6. Tocilizumab in two children with pansclerotic morphoea: a hopeful therapy for refractory cases?
- April Zhang, MD1; James Nocton, MD2; Yvonne Chiu, MD3. A Case of Pansclerotic Morphea Treated With Tocilizumab
- Maria Osminina *, Nathalia Geppe, Elena Afonina. Scleroderma "en coup de sabre" With Epilepsy and Uveitis Successfully Treated With Tocilizumab
- Sarah Ventéjou1, Agnes Schwieger-Briel2, Rebecca Nicolai3, Stephanie Christen-Zaech1, Caroline Schnider4, Michael Hofer4, Sofia Bogiatzi5, Daniel Hohl5, Fabrizio De Benedetti3t. Case Report: Pansclerotic Morphea-Clinical Features, Differential Diagnoses and Modern Treatment Concepts.