Hyper‐IgE syndrome in an 11 year old female presenting with acneiform rash

Autor: Berbie Byrne, Tom Hefferon, Rob Harrington, Marion Leahy, Annette Murphy
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Skin Health and Disease, Vol 4, Iss 1, Pp n/a-n/a (2024)
Druh dokumentu: article
ISSN: 2690-442X
DOI: 10.1002/ski2.297
Popis: Abstract Hyper‐IgE (HIES) is a rare, primary immunodeficiency characterised by eczema, recurrent staphylococcal infections, pneumonia, increased serum IgE and eosinophilia. We present the case of an 11‐year‐old girl presenting to dermatology with an acneiform facial rash and associated bacterial lymphadenitis. History was significant for otitis media, primary tooth retention, low impact wrist fracture, infantile acne and an absence of eczema or pneumonia. Investigations demonstrated mildly elevated IgE, normal eosinophils but positivity for a STAT3 gene mutation—thus representing a case of HIES presenting as an acneiform facial rash with absence of other primary immunological features.
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