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13 Cards in this Set
- Front
- Back
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Clinical Hyper-Ige Syndrome
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Synonym
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Job syndrome thought to be a variant
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Inheritance
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Autosomal dominant with variable expressivity; chromosome 4q21 gene unknown
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Prenatal
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None listed
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Incidence
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Rare approximately 150 patients described; M~ F
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Age at Presentation
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First few months to first year of life
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Pathogenesis
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Impaired regulation of IgE function and deficient neutrophil chernotaxis may play a role in susceptibility to infection
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Clinical
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Skin
Excoriated papules, pustules, furuncles, cellulitis and abscesses (30% cold) on scalp, neck, axillae, groin, periorbital; paronychial infection; infected with S. au¬reus (most commonly); also Candida, streptococcus Eczematous dermatitis increased in flexures, postauricular, hairline Sinopulmonary Recurrent bronchitis, lung abscesses, pneumonia secondary to S. aureus, Haemophilus influenzae; pneurnatoceles with bacterial/fungal superinfection, empyemas, recurrent otitis media, sinusitis |
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Clinical
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Craniofacial
Coarse facies with broad nasal bridge, prominent nose Musculoskeletal Osteopenia with secondary fractures (pelvis, long bones, ribs most common), scoliosis, hyperextensible joints Dental Retained primary teeth, lack of development of secondary teeth |
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DDx
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Atopic dermatitis
Wiskott Aldrich syndrome (p. 256) DiGeorge syndrome |
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Lab
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IgE level markedly increased, IgD increased
Abnormal leukocyte/monocyte chernotaxis in some cases Peripheral eosinophilia Bacterial cultures |
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Management
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Long term antistaphylococcal antibiotics for prophylaxis, therapy; incision/drainage ot abscesses; antifungal therapy
Interferon g and y globulin improve chernotaxis and decrease IgE levels, respectively Cimetidine immune modulation Referral to thoracic surgeon excision of persistent pneurnatoceles |
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Prognosis
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Death may occur at early age if persistent bacterial or fungal infection of lungs exist; otherwise, with prophylaxis, prognosis is excellent
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