Changes in Cutaneous Gene Expression after Microvascular Free Tissue Transfer in Parry Romberg Disease

Purpose: Parry Romberg's Disease (PRD) is an enigmatic craniofacial disorder characterized by progressive facial atrophy. The pathogenesis and molecular mechanisms governing PRD have never before been described. The purpose of our current study was two fold; 1) to begin to elucidate the pathophysiology of this disease using next gen RNA sequencing and 2) evaluate the effect of surgical treatment on gene expression. Methods: Patients with PRD underwent microvascular free tissue transfer (MVFF) to the face to address contour deformity in both active and burned out disease. Tissue samples were collected for analysis at the time of initial MVFF, and 6 months later at a scheduled revision surgery. Patients presenting for rhytidectomy had tissue samples taken as control tissue. Patients with disease were compared to control samples. Results: Twenty two subjects were evaluated. (Six control and Sixteen Parry Romberg patients) All patients with PRD underwent MVFF to the face. Thirteen patients underwent scheduled six month revision surgery. Disease samples were distinct from healthy controls, and postoperative patient samples were more similar to healthy control samples. Parry Romberg patients had a unique proinflammatory gene expression profile including upregulation of: IL24, ADAMTS4, and GFCSF3. Postoperatively, more than 3,400 genes were changed (p

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