الملخص الإنجليزي
Ectodermal dysplasia (ED) is a group of disorders involving developmental defects of the ectodermal structures, with abnormalities in the skin, hair, nails and sweat glands. Ankyloblepharon - ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is characterized by eyelid fusion, ED and cleft lip/palate. We report a 15-year-old Omani boy with AEC syndrome who presented with end-stage renal disease (ESRD) requiring renal replacement therapy. Genitourinary anomalies including hypospadiasis, posterior urethral stricture and bilateral vesicoureteric reflux were noted. These led to secondary focal segmental glomerulosclerosis and ESRD. Screening for genitourinary anomalies and renal function tests must be performed in all patients with ED to facilitate early detection of renal disease and appropriate management.
