A 16-month-old boy (Fig. 1) was referred to the Department of Pediatrics, University Hospital of Hacettepe, in February 1997, suffering from recurrent fever and inability to sweat. His history revealed repeated otitis media and rhinitis, together with dry skin and heat intolerance. Lacrimation was also lacking. His parents were not relatives and both of them were healthy. On physical examination, his weight was below the third percentile for length; the patient was irritable, but normal in view of mental development. His skin (Fig. 2) was smooth, dry, and pale. Subcutaneous fat was scanty and vessels were easily visualized. His nails, palms, and soles were normal, his scalp hair was sparse, fragile, and extremely blonde, and his eyebrows and eyelashes were lacking. His nose was saddled, Anodontia was present, and ortopantography revealed that only one canine at each side of the mandible and two canines at the upper jaw were present, and were conical in shape (Fig. 3). The ears were pointed and low set.