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- Presentation
Challenging Pediatric and Adult Autoimmune Connective Tissue Disease Cases
Description
The presentation discusses two complex cases of autoimmune connective tissue diseases, focusing on innovative monitoring and diagnostic strategies. In the first case, a young girl with morphia exhibited subtle craniofacial changes that were difficult to track through traditional methods. The clinic implemented 3D stereo photogrammetry as a non-invasive imaging technique, which proved valuable in detecting disease progression that clinical exams had missed. For example, 3D imaging confirmed ongoing facial atrophy in a patient initially thought to have stable disease. Furthermore, autologous fat transfer was explored as a treatment option post-remission, showing promising results in restoring facial symmetry. The second case involved a woman with skin lesions initially thought to indicate vasculitis. However, clinical assessment revealed a mucocutaneous phenotype consistent with MDA 5 dermatomyositis, which is associated with severe complications such as interstitial lung disease. Recognizing the specific skin manifestations allowed for early diagnosis, critical for improving patient outcomes. The discussion emphasized the importance of clinical observation in conjunction with advanced imaging and a thorough understanding of disease manifestations to enhance diagnostic accuracy in autoimmune connective tissue diseases.
View moreConclusions
- 3D stereo photogrammetry is effective in detecting disease progression in craniofacial morphia, complementing traditional clinical assessments.
- The method has the ability to reveal occult progression that is not visible through standard clinical exams.
- In cases of craniofacial morphia, 3D imaging provides a non-invasive, radiation-free alternative for tracking changes over time.
- Sequential 3D imaging can help monitor treatment outcomes, including improvements after interventions like autologous fat transfer.
- Recognition of specific clinical phenotypes, like MDA-5 dermatomyositis, is critical for timely and appropriate management.
- Patients with MDA-5 antibodies are at high risk for rapidly progressive interstitial lung disease and poor survival outcomes.
- A careful clinical examination is essential as not all MDA-5 patients will have positive antibody tests, highlighting the need for skilled diagnosis based on physical symptoms.
- There is a need to prioritize clinical phenotype over antibody profiles to guide management in autoimmune conditions.
- Shaw KS, Nguyen TT, Rajeh A, et al. Use of 3-Dimensional Stereophotogrammetry to Detect Disease Progression in Craniofacial Morphea. JAMA Dermatol. Published online October 11, 2023. doi:10.1001/jamadermatol.2023.3649
- Fiorentino D, Chung L, Zwerner J, Rosen A, Casciola-Rosen L. The mucocutaneous and systemic phenotype of dermatomyositis patients with antibodies to MDA5 (CADM-140): a retrospective study. J Am Acad Dermatol. 2011
- Moghadam-Kia S, Oddis CV, Sato S, Kuwana M, Aggarwal R. Anti-Melanoma Differentiation-Associated Gene 5 Is Associated With Rapidly Progressive Lung Disease and Poor Survival in US Patients With Amyopathic and Myopathic Dermatomyositis. Arthritis Care Res (Hoboken). 2016 May;68(5):689-94.