Recurrent ethmoid mucocele with cellulitis in a patient with Pfeiffer syndrome

Pfeiffer syndrome is one of six craniosynostosis syndromes and presents with craniosynostosis (the premature fusion of one or more calvarial sutures) and skeletal abnormalities. The aetiology of Pfeiffer syndrome is thought to be caused by mutations in the fibroblast growth factor genes FGFR1 and FGFR2. The anatomical complexity of craniosynostosis syndromes means that the long-term management of patients requires a multidisciplinary team approach. Patients with craniosynostosis syndromes are predisposed to sinus infections, including sinusitis, due to structural abnormalities and iatrogenic alterations in sinus anatomy following reconstruction. In this case report, we report a 14-year-old boy with Pfeiffer syndrome who presented with periorbital cellulitis secondary to recurrent ethmoid sinusitis. To the best of our knowledge, this is the first case of ethmoid sinusitis in a patient with Pfeiffer syndrome reported in the literature.

JNK-mediated Slit-Robo signaling facilitates epithelial wound repair by extruding dying cells

Multicellular organisms repair injured epithelium by evolutionarily conserved biological processes including activation of c-Jun N-terminal kinase (JNK) signaling. Here, we show in Drosophila imaginal epithelium that physical injury leads to the emergence of dying cells, which are extruded from the wounded tissue by JNK-induced Slit-Roundabout2 (Robo2) repulsive signaling. Reducing Slit-Robo2 signaling in the wounded tissue suppresses extrusion of dying cells and generates aberrant cells with highly upregulated growth factors Wingless (Wg) and Decapentaplegic (Dpp). The inappropriately elevated Wg and Dpp impairs wound repair, as halving one of these growth factor genes cancelled wound healing defects caused by Slit-Robo2 downregulation. Our data suggest that JNK-mediated Slit-Robo2 signaling contributes to epithelial wound repair by promoting extrusion of dying cells from the wounded tissue, which facilitates transient and appropriate induction of growth factors for proper wound healing.