Wiskott-Aldrich Syndrome with a Variety of Skin Manifestations

Abstract

The patient was a 1-month old male who was the product of a normal delivery and weighed 2,990 g at birth. At approximately one week of age bloody stools and fever were noted, and because oral aphthae and folliculitis were also observed, at first a Behçet’s-syndrome-like disease was suspected in a patient, who was then treated sequentially with mesalazine enemas, systemic steroid therapy, and finally with cyclosporine and thalidomide, but no improvement was seen in his general condition. When his intestinal bleeding increased and persisted, a subtotal colectomy was performed at the age of 8 months. Beginning at the age of 10 months, the patient developed a rash consisting mainly of eczematous lesions, then contracted carinii pneumonia and sepsis, and repeatedly developed phlegmons, suggesting immunodeficiency. Because the thrombopenia was accompanied by decreased platelet size, Wiskott-Aldrich syndrome (WAS) was suspected. When we examined the WAS protein gene, a mutation was detected in exon 4, and we made a definitive diagnosis of WAS.