Life-threatening cervicofacial infection in a child with hyperimmunoglobulin-E syndrome

Abstract

The hyperimmunoglobulin E (hyper-IgE) syndrome (Job syndrome) is characterized by recurrent staphylococcal sinopulmonary and skin abscesses, pneumonia with pneumatocele formation, and elevations of serum IgE. The pathophysiology is unclear, and no specific defect in the immune system has been found in all patients.1 Studies have detected pronounced blood and sputum and abscess eosinophilia, chemotactic defects in the circulating neutrophils, abnormalities in T-lymphocyte subgroups, defective antibody production, and decreased production of, or response to, cytokines such as interleukin-4 and interferon-gamma.1 Recently, it has been demonstrated that the T-cell–derived lymphokine interleukin-4 plays a central role in the regulation of IgE.2 Hyper-IgE syndrome affects multiple systems including the dentition, the skeleton, connective tissues, and the immune system. It is inherited as a single-locus autosomal dominant trait with variable expressivity.1 All hyper-IgE patients have elevated IgE levels at least 10 times greater than the upper limits of normal ( 2,000 IU/mL).3 From as early as infancy, clinical manifestations include recurrent, severe bouts of furunculosis and pneumonia caused by Staphylococcus aureus. Recurrent bronchitis is another frequent finding.3 Lobectomy secondary to lung abscesses is common. A peculiar tendency of the abscesses to localize about the scalp, face, and neck is observed in infants and younger children. There is often a history of pruritic dermatitis earlier in life. The rash is predominantly in the flexural areas of the body, behind the ears, and around the hairline, and may become impetiginized.3 Also, otitis externa and chronic otitis media are frequently seen.3 Deep-seated infections other than pneumonias are unusual.3 Urinary tract infections and gastrointestinal infections are not increased in frequency. Other common features of the syndrome include coarse facies as evidenced by a broad nasal bridge and fleshy nasal tip, a prominent forehead, a prominent nose, a high-arched palate, and irregularly proportioned cheeks and a prognathic jaw. Infrequently, instances of craniosynostosis have been reported. Unexplained osteopenia is present in most patients with the hyper-IgE syndrome; many of whom have problems with recurrent fractures. An unrecognized feature of the hyper-IgE syndrome, the failure to shed primary teeth, was recently reported to occur in 72% of 30 patients old enough for evaluation in the study.1 The following report describes the diagnosis and management of a case of hyper-IgE syndrome complicated by a periapical abscess leading to a life-threatening deep space neck infection.