Osteogenesis Imperfecta Tarda in a Child With Hyper-IgE Syndrome

Job syndrome masquerading as non-accidental injury

“…Likewise, a radiological diagnosis of osteogenesis imperfecta tarda has been reported in a patient with Job syndrome, based on recurrent fractures and reduced bone density 7. Further observations include multiple fractures of phalynx, rib and fibula in a 15-year-old boy with Job syndrome8 whose bone density was normal.…”

Craniosynostosis in hyper-IgE-syndrome

“…Casual association of HIE with craniosynostosis or scaphocephaly would be highly unlikely, since scaphocephaly occurs at a rate of i in 2400 and HIE at a rate of 1 in 500000 [1,5] 7. Causes of secondary craniosynostosis, such as thyreotoxicosis, mucopolysaccharidosis, rickets and chromosomal abnormalities [4] have been ruled out in our patient.…”

Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

“…[60] Impaired deciduation of primary teeth due to the persistence of epithelial root sheath in HIES patients is found quite consistently which in turn prevents the appropriate eruption of the permanent successors. [1561] It is likely that the delay in dental root resorption, as well as the ineffective inflammatory responses causing pneumatocele formation, are both manifestations of impaired cytokine-mediated osteoclasts and macrophage activation.…”