European Journal of Dermatology
MENUOmenn syndrome. A case report of a successful, heterologous bone marrow transplantation Volume 7, issue 1, January - February 1997
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- Key words: severe combined immunodeficiency, exfoliative erythroderma, failure to thrive, bone marrow transplantation.
- Page(s) : 12-4
- Published in: 2000
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.