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Chromosome 22q11.2 deletion syndrome linked to severe eczema


A 3-month old Japanese boy was born with a pruritic eruption over his whole body, hypocalcemia, congenital heart defects and abnormal facial appearance. He had a decreased CD4+ T-cell count, high levels of IgE and eosinophilia. A subsequent diagnosis of chromosome 22q11.2 deletion syndrome was made. The patient was treated with topical hydrocortisone and oral prednisolone but subsequently died of interstitial pneumonia, respiratory and heart failure. Only one such previous case of severe eczema has been reported in the literature (Minakawa, S. et al. Clin Exptl Dermatol 2009, 34(3): 401).

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