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Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency

Anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID) is an X-linked recessive genodermatosis, characterized by a severe eczematous eruption, hypohidrosis, dental anomalies, alopecia and immunodeficiency. We report a case of intractable eczematous eruption in a patient with EDA-ID, which disappeared completely after allogenic transplantation of umbilical-cord blood. A 4-month-old Japanese boy with a pruritic eruption over his whole body since birth was referred to our clinic. On physical examination, diffuse erythema and reddish papules were seen, with evidence of scratching over most of the body, which was compatible with atopic dermatitis (Fig. 1). In addition, dry skin with flaky scales was found on the chest, back and limbs. Histological examination of a skin biopsy specimen found spongiotic changes in the epidermis and perivascular lymphoid and eosinophilic infiltration in the superficial dermis. Laboratory investigations deficient cellular immunity.