Cri du Chat Syndrome with Gingival Fibromatosis: histopathological analysis with Confocal Laser Scanning Microscopy

Objective: Cri du Chat Syndrome (CCS) is a rare chromosomal disorder resulting from deletion of the short arm of chromosome 5, characterized by distinctive catlike cry since born due to typical larynx (small and narrow) and epiglottis anomalies. We report on still unreported clinic-pathological features CCS: diffuse Gingival Fibromatosis (GF) with Confocal Laser Scanning Microscopic (CLSM) examination.Case Presentation: A 21-year-old female, affected by CCS showed diffuse GF on the palatal gingiva in the molar region (linked to dental dislocation and malocclusion), which was surgically removed by Diode Laser, formalin-fixed, stained with hematoxylin-eosin and picrosirius red and analyzed at CLSM Nikon E-600 with double Laser inducing fluorescence (green and red).Results: Microscopically, the lesion consisted in large parallel collagenous fibers, abundant blood vessels with plump endothelial cells and chronic inflammatory reaction, and large polygonal cells in the vascular interstitial spaces, with large nuclei, resembling undifferentiated totipotent mesenchymal cells (stem-like cells). At CLSM large and variably oriented collagenous fibers displayed intense fluorescence due to cross-linking between such fibers, which generally characterize fibromatosis, and the vascular structures. The latter showed lower fluorescence intensity, and were surrounded by loose collagenous fibers and trapezoidal large mesenchymal cells.Conclusions: GF seems a characteristic feature of CCS, with typical fluorescent pattern at CLSM, in which purported totipotent mesenchymal cells may play a pathogenetic role.