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.

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 β4 protein. Parental testing confirmed inheritance of frameshift variant (c.