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- W2047354596 abstract "Introduction: Hyper‐immunoglobulin E syndrome (HIES) is a rare multisystem primary immunodeficiency caused by mutation in signal transducer and activator of transcription gene protein 3, associated with recurrent skin and sinopulmonary infection and high serum levels of immunoglobulin E (IgE). It is mostly sporadic, but familial inheritance with autosomal dominant and autosomal recessive forms are seen. Ligneous periodontitis and conjunctivitis are rare poorly defined conditions, characterized by pseudomembranous inflammation of mucosa. There is accumulation of fibrin in lamina propria mostly as a result of quantitative plasminogen deficiency. Case Presentation: An 18‐year‐old Indian girl with history of newborn rash had generalized pseudomembranous periodontitis, bilateral pseudomembranous conjunctivitis, multiple staphylococcal abscesses on the feet, right radial neck fracture after minor trauma, eosinophilia, and raised IgE. Subepithelial deposition of fibrin was seen in gingival and conjunctival biopsies. The National Institutes of Health scoring system for HIES was calculated to be 42 (HIES score >40 points indicates that the presence of autosomal dominant HIES genotype is highly likely). Segmental gingivectomies, topical heparin, and corticosteroids were not effective in dentate areas of gingiva, whereas edentulous areas healed normally. Oral and topical antibiotics caused resolution of the skin abscesses, whereas lubricating and corticosteroid eye drops caused improvement in conjunctival lesions. Conclusions: Ligneous periodontitis and conjunctivitis are novel manifestations in HIES recalcitrant to various treatments. Optimal therapy would be systemic plasminogen concentrate replacement, which is not commercially available. Extensive investigations and a multidisciplinary approach to diagnosis and management are required." @default.
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- W2047354596 date "2012-08-01" @default.
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- W2047354596 title "Ligneous Periodontitis and Conjunctivitis With Hyper-Immunoglobulin E Syndrome" @default.
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- W2047354596 doi "https://doi.org/10.1902/cap.2012.110060" @default.
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