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Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome.
Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, short stature, microcephaly, distinct facial dysmorphism, and psychomotoric retardation. The hyper-immunoglobulin E (hyper-IgE or Job syndrome) is a primary immunodeficiency characterized by recurrent staphylococcal abscesses, recurrent cyst-forming pneumonia, and an elevated serum IgE level of >2000 IU/ml. We present the first case to our knowledge of an association between Dubowitz syndrome, hyper-IgE syndrome, and nasal polyposis (due to allergic fungal sinusitis) in a 14-year-old girl. Eosinophilic inflammatory reaction is the feature present in all three conditions. Unlike most cases of allergic fungal sinusitis, this case was not treated with an initial booster of oral steroids due to the risk of disseminated invasive fungal infection, reported in other cases of hyper-IgE syndrome. The case and its management is presented and discussed.
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