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Omenn's syndrome: lessons from a red baby
Authors:Katugampola R P  Morgan G  Khetan R  Williams N  Blackford S
Institution:Department of Dermatology, School of Medicine, Cardiff University, Cardiff, UK;Department of Developmental Medicine (Paediatrics/Immunology), School of Medicine, University of Wales, Swansea, UK;;and Departments of Histopathology;and Dermatology, Singleton Hospital, Swansea, UK
Abstract:Exfoliative dermatitis and erythroderma in infancy are rare. Clinicians need to be alert to the possible diagnosis of Omenn's syndrome (OS), a rare form of combined immunodeficiency in infants presenting with exfoliative dermatitis, erythroderma, recurrent infections, eosinophilia and raised IgE. OS is fatal unless treated by bone-marrow transplantation (BMT). We describe a 3-week-old girl who presented with a widespread scaly erythematous rash and stomatitis, and was initially treated for presumed atopic eczema and primary herpes stomatitis. Aged 3 months, she developed erythroderma, diarrhoea and hepatosplenomegaly associated with eosinophilia, raised serum IgE and low IgG, IgA and IgM levels, abnormal lymphocyte populations and skin histology, consistent with a diagnosis of OS. She remains well 16 months after a human leucocyte antigen-matched bone-marrow transplant from an unrelated donor.
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