Brain Abscess and Keratoacanthoma Suggestive of Hyper IgE Syndrome.

Soheyla Alyasin,Mohammad Bahadoram,Gholamreza Houshmand,Alireza Teymoori,Hamidreza Houshmand,Reza Amin

doi:10.1155/2015/341898

Soheyla Alyasin, Mohammad Bahadoram + Show 4 more

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https://doi.org/10.1155/2015/341898

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Abstract

Hyper immunoglobulin-E (IgE) syndrome is an autosomal immune deficiency disease. It is characterized by an increase in IgE and eosinophil count with both T-cell and B-cell malfunction. Here, we report an 8-year-old boy whose disease started with an unusual skin manifestation. When 6 months old he developed generalized red, nontender nodules and pathologic report of the skin lesion was unremarkable (inflammatory). Then he developed a painless, cold abscess. At the age of 4 years, he developed a seronegative polyarticular arthritis. Another skin biopsy was taken which was in favor of Keratoacanthoma. Laboratory workup for immune deficiency showed high eosinophil count and high level of immunoglobulin-E, due to some diagnostic criteria (NIH sores: 41 in 9-year-olds), he was suggestive of hyper IgE syndrome. At the age of 8, the patient developed an abscess in the left inguinal region. While in hospital, the patient developed generalized tonic colonic convulsion and fever. Brain computed tomography scan revealed an abscess in the right frontal lobe. Subsequently magnetic resonance imaging (MRI) of the brain indicated expansion of the existing abscess to contralateral frontal lobe (left side). After evacuating the abscesses and administrating intravenous antibiotic, the patient's condition improved dramatically and fever stopped.

Highlights

Hyper immunoglobulin-E syndrome (HIES) is a rare primary immunodeficiency disease, characterized by the classical triad of recurrent staphylococcal skin abscesses, pneumonia with pneumatocele formation, and elevated levels of serum IgE, usually over 2,000 IU/mL [1]
T helper 2 cell numbers and cytokines were significantly increased in DOCK8 IgE syndrome and atopic dermatitis patients, compared to STAT3 hyper IgE syndrome patients [3]
Hyper IgE syndrome is a rare, primary, complex immunodeficiency disease which results from dysfunction of both T-lymphocytes and B-lymphocytes [1]

Summary

Introduction

Hyper immunoglobulin-E syndrome (HIES) is a rare primary immunodeficiency disease, characterized by the classical triad of recurrent staphylococcal skin abscesses, pneumonia with pneumatocele formation, and elevated levels of serum IgE, usually over 2,000 IU/mL [1]. New hyper IgE syndrome entities have been reported [1] These include impairment of PGM3 function (phosphoglucomutase 3) and an enzyme in the glycosylation pathway (glycosylation defect). Such deficiencies are believed to be the genetic cause of hyper IgE syndrome in patients who do not carry mutations in STAT3 or DOCK8 [2]. DOCK8 hyper IgE syndrome patients present in infancy with severe atopic dermatitis and can later go on to develop severe food allergy with positive skin prick test result and specific IgE to food allergens. In DOCK8deficient hyper IgE syndrome the high mortality and deaths in early age seem to justify allogenic hematopoietic stem cell transplantation [1] Both dominant and recessive forms have been reported. The following case presented with an unusual skin lesion had multiple episodes of skin abscess formation, keratoacanthoma, and brain abscesses

Case Report

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Discussion