Orthopedic Manifestation in a Child with Hyperimmunoglobulin E Syndrome

We report a 12-year-old girl with hyperimmunoglobulin E (HIE) syndrome who presented with genu vulgus of left knee, joint deformities involving both hands, and frequent fractures. She had had chronic eczema and recurrent skin and soft tissue infections since infancy, and was found to have a pneumatocele during admission. Immunologic abnormalities included extremely elevated serum IgE levels (18989 lU/ml) and cutaneous anergy to Candida, purified protein derivative, and tetanus toxoid. The results of polymorphonuclear leukocyte function tests including the nitroblue tetrazolium test and chemotaxis were normal. A high index of suspicion for HIE syndrome should be given in patients with recurrent skin infections and orthopedic complaints. The physician should anticipate orthopedic problems in caring for patients with HIE syndrome, and optimal antibiotics prophylaxis should be used.