Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.

We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding integrin ß4 protein. Parental testing confirmed inheritance of frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C>T/p.Cys536Cys) as paternal. Immunofluorescence mapping of her skin revealed a subepidermal blister with decreased and frayed integrin ß4 at both the floor and the roof of the blister, while the intestinal mucosa showed complete absence of integrin ß4. We review the literature and discuss the differential expression of integrins in the skin and gastrointestinal tract, as well as the role of chronic inflammation in the pathogenesis of EB.

Pediatric orbital cellulitis: Case report of an unusual etiology and pathogen.

Orbital cellulitis is an uncommon condition with risks to sight and life. As a complication of maxillofacial injuries, the literature suggests this is only possible with fractures or direct inoculation, and there are no reports to the contrary. Here, we make the first report of a possible etiology by which orbital cellulitis developed in a 14-year-old boy even without skin breach or bony fractures; as well as a rare causative pathogen. He presented with facial abscess and progressive orbital cellulitis after blunt facial trauma, requiring functional endoscopic sinus surgery with needle aspiration of facial abscess externally. Cultures showed growth of Streptococcus constellatus/Parvimonas micra, and he received further antibiotics with full recovery.The pathophysiology of orbital cellulitis in this patient is attributed to vascular congestion and local pressure from maxillofacial contusion and maxillary hemoantrum, with impaired paranasal sinus ventilation encouraging anaerobic bacterial growth. Further progression led to facial abscess formation and intraorbital spread with orbital cellulitis. The pediatric demographic is injury-prone, and self-reporting of symptoms can be delayed. Hence, increased suspicion of complicated injuries and orbital cellulitis may be required when managing maxillofacial contusions so that prompt treatment can be given.