Scleromyxedema With Neurologic Involvement: Therapy With Intravenous Immunoglobulin

A 4-month-old Japanese boy was diagnosed with anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID), characterized by severe eczema, alopecia, and immunodeficiency, due to a mutation in the NEMO gene. Despite initial treatment with hydrocortisone cream and a moisturizer, his condition showed minimal improvement. At 3 years old, he underwent umbilical cord blood transplantation, which gradually improved his symptoms, although he developed acute graft-versus-host disease (GVHD) post-transplant. A year later, his eczematous eruption had nearly disappeared, leaving only slight xerosis. The NEMO gene mutation was identified in both the patient and his mother, who had been diagnosed with incontinentia pigmenti.