Omenn's syndrome: lessons from a red baby

Clin Exp Dermatol. 2008 Jul;33(4):425-8. doi: 10.1111/j.1365-2230.2008.02766.x. Epub 2008 May 21.


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.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Transplantation / pathology
  • Dermatitis, Exfoliative / genetics
  • Dermatitis, Exfoliative / pathology*
  • Dermatitis, Exfoliative / therapy
  • Diagnosis, Differential
  • Early Diagnosis
  • Female
  • Graft vs Host Disease / drug therapy
  • Graft vs Host Disease / pathology
  • Graft vs Host Disease / prevention & control
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / pathology*
  • Immunologic Deficiency Syndromes / therapy
  • Infant, Newborn
  • Stomatitis / pathology
  • Syndrome
  • Treatment Outcome