Recurrent giant chalazia in hyperimmunoglobulin E (Job's) syndrome.
ABSTRACT Hyperimmunoglobulinemia E (Job's) syndrome is a rare autosomal dominant disorder appearing early in life with recurrent skin and pulmonary infections, characterized by markedly increased serum immunoglobulin E (IgE) levels. We describe a 50-year-old man with a 4-year history of recurrent, multiple giant chalazia in all eyelids. Medications and surgical intervention had produced only transient improvement. The patient had also had pulmonary and scalp infection. Laboratory tests disclosed elevated serum IgE (>1,000 IU/ml) and eosinophilia. As a result, based on the patient's history and clinical and laboratory findings, a diagnosis of Job's syndrome was made. Even though rarely, recurrent multiple giant chalazia may occur as an ophthalmic feature of Job's syndrome. Hyperimmunoglobulinemia E syndrome should be suspected in any case of recurrent giant chalazia, regardless of the patient's age. Measurement of serum IgE and eosinophils, along with internal evaluation, is essential to establish a proper diagnosis.
Article: The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency.[show abstract] [hide abstract]
ABSTRACT: The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities--the classical hyper-IgE syndrome which is inherited in an autosomal dominant pattern and the autosomal recessive hyper-IgE syndrome--have been recognized. The autosomal dominant hyper-IgE syndrome is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities which are not observable in the recessive type. In the majority of affected patients with autosomal dominant hyper-IgE syndrome a mutation in the signal transducer and the activator of the transcription 3 gene has been identified, leading to an impaired Th17 cells differentiation and to a downregulation of an antimicrobial response. A mutation in the dedicator of the cytokinesis 8 gene has been identified as the cause of many cases with autosomal recessive hyper-IgE syndrome and, in one patient, a mutation in tyrosine kinase 2 gene has been demonstrated. In this paper, the authors provide a review of the clinical manifestations in the hyper-IgE syndromes with particular emphasis on the diversity of their phenotypic expression and present current diagnostic guidelines for these diseases.Orphanet Journal of Rare Diseases 11/2011; 6:76. · 5.83 Impact Factor