Background: Parry-Romberg syndrome is an enigmatic craniofacial disorder characterized by progressive facial atrophy. The pathogenesis and molecular mechanisms governing Parry-Romberg syndrome have never before been described. The purpose of the current study was twofold: (1) to begin to elucidate the pathophysiology of this disease using next-generation RNA sequencing and (2) to evaluate the effect of surgical treatment on gene expression.
Methods: Patients with Parry-Romberg syndrome underwent microvascular free tissue transfer 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 microvascular free tissue transfer, and 6 months later at a scheduled revision operation. Patients presenting for rhytidectomy had tissue samples taken as control tissue. Samples from patients with disease were compared to control samples.
Results: Twenty-two subjects were evaluated (six control and 16 Parry-Romberg syndrome patients). All patients with Parry-Romberg syndrome underwent microvascular free tissue transfer to the face. Thirteen patients underwent scheduled 6-month revision surgery. Disease samples were distinct from healthy controls, and postoperative patient samples were more similar to healthy control samples. Parry-Romberg syndrome patients had a unique proinflammatory gene expression profile, including up-regulation of IL24, ADAMTS4, and GFCSF3. Postoperatively, more than 3400 genes were changed (p < 0.005), and of the 460 genes dysregulated in disease, 118 were changed in a corrective fashion by microvascular free tissue transfer.
Conclusions: The authors describe for the first time molecular signatures in Parry-Romberg syndrome. Molecular signatures in skin became more similar to those in healthy controls and were associated with clinical improvement after microvascular free tissue transfer in Parry-Romberg syndrome.