Unlocking Personalized Diagnosis and Treatment Strategies for Rare, Unclassifiable, and Refractory Immune-Mediated Inflammatory Skin Diseases: Insight from Transcriptomic Analysis.

The diagnosis and treatment of patients with rare and unclassifiable immune-mediated inflammatory
skin diseases (skIMIDs) pose significant challenges in clinical practice, particularly due to a limited
understanding of their underlying pathophysiology. This challenge is further enhanced when clinical
features, serologic results, and histological examination do not provide a clear diagnosis. Objective of
this study is to unravel the pathophysiology of rare, refractory, and unclassifiable skIMIDs via bulk
RNA-sequencing. By identifying the responsible inflammatory disease pathways, I will be able to
develop personalized treatment strategies utilizing targeted biological therapies. Skin biopsies and
peripheral blood will be collected from patients suffering from rare, refractory, or unclassifiable
skIMIDs at three predefined time points. Subsequent analysis via bulk RNA-sequencing will enable
the identification of up- and downregulated genes compared to healthy controls, thereby pinpointing
the inflammatory pathways driving skin inflammation. The insights gained from this research hold
the promise of revolutionizing the diagnosis and treatment of skIMIDs, offering patients cutting-edge
personalized treatment plans tailored to their unique transcriptomic fingerprint.