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European Journal of Dermatology

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Omenn syndrome. A case report of a successful, heterologous bone marrow transplantation Volume 7, issue 1, January - February 1997

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Authors
Center for Inherited Cutaneous Diseases, Institute of Dermatological Sciences, University of Milan, IRCCS Policlinico, Via Pace 9, I-20122 Milan, Italy.

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.