Omenn syndrome. A case report of a successful, heterologous bone marrow transplantation

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Abstract

We report the case of a 2-month-old boy, born of healthy and unrelated parents, presenting at birth with an exfoliative erythroderma, soft and waxy skin, alopecia, and recurrent widespread exudative episodes with hyperthermia and a severe electrolyte imbalance. Hypotrophy of muscular masses, splenomegaly, episodes of intractable diarrhoea and failure to thrive occurred later. A severe, combined immunodeficiency with eosinophilia emerged from the laboraty investigations. All these signs were consistent with the diagnosis of Omenn syndrome, a rare, autosomal recessive disease. The cutaneous features are the first sign of this disorder and an early diagnosis is crucial in order to manage the patient. Finally, successful therapeutic heterologous HLA compatible bone marrow transplantation from a donor-bank is described.

Original languageEnglish
Pages (from-to)12-14
Number of pages3
JournalEuropean Journal of Dermatology
Volume7
Issue number1
Publication statusPublished - 1997

Keywords

  • bone marrow transplantation
  • exfoliative erythroderma
  • failure to thrive
  • severe combined immunodeficiency

ASJC Scopus subject areas

  • Dermatology

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