Omenn's syndrome: lessons from a red baby.
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.
Katugampola
R P
RP
Department of Dermatology, School of Medicine, Cardiff University, Cardiff, UK. ruwanik@hotmail.com
Morgan
G
G
Khetan
R
R
Williams
N
N
Blackford
S
S
D016026:Bone Marrow Transplantation / Q000473:pathology; D003873:Dermatitis, Exfoliative / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005260:Female; D006086:Graft vs Host Disease / Q000188:drug therapy / Q000473:pathology / Q000517:prevention & control; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D007231:Infant, Newborn; D013280:Stomatitis / Q000473:pathology; D013577:Syndrome; D016896:Treatment Outcome