Eosinophilic cystitis is a very rare clinical disease entity in the pediatric population. We report two cases of Filipino children with eosinophilic cystitis who presented with irritative voiding symptoms, gross hematuria, peripheral eosinophilia, and hydroureteronephrosis and urinary bladder wall thickening visualized on ultrasonography and CT urography. Cystoscopy and transurethral biopsy confirmed the diagnosis. Both patients were started with corticosteroid with or without an antihistamine. Resolution from the signs and symptoms were observed in both patients as documented by disappearance of peripheral eosinophilia, normal urinalysis results, and resolution of the hydroureteronephrosis and urinary bladder wall thickening on ultrasonography on follow-up.

No abstract

Hyper IgE syndrome (HIES) encompasses a group of primary immunodeficiency diseases (PIDs) that is characterized by severe atopy, and recurrent infections and markedly elevated serum IgE levels. The majority of HIES cases suffer from autosomal dominant mutations in the signal transducer and activator of transcription 3 gene. A minority of cases display autosomal recessive inheritance, and one form is caused by mutations in the dedicator of cytokinesis 8 ( DOCK8 ) gene. Here we describe the first recognized and diagnosed case of DOCK8 deficiency in the Philippines. A 14 year-old-girl was referred due to recalcitrant atopic dermatitis, recurrent sinopulmonary infections, with widespread warts on the face, trunk and extremities. She had no coarse facial features or retained primary teeth, whereas she presented with widespread viral skin infections and multiple allergic diseases. Laboratory examinations revealed elevations in eosinophil count and serum IgE. The level of T-cell receptor excision circles was undetectable. The patient was suspected to have HIES with a probable DOCK8 deficiency. Genetic analysis disclosed a large genomic deletion involving exons 2-4 in the DOCK8 gene. A combination of recalcitrant atopic dermatitis, asthma, food allergies, with viral skin infections should increase the physician's consideration of a PID. Patients with HIES accompanied by warts and T-cell deficiency can be strongly suspected to have DOCK8 deficiency.