Several diseases cause a salt-wasting state during infancy, notably with severe diarrhea, endocrine abnormalities (such as congenital adrenal hyperplasia), renal disease, and cystic fibrosis.1 However, none are associated with a specific eye abnormality. Pseudohypoaldosteronism (PHA) is characterized by salt wasting with hyponatremia and hyperkalemia in the presence of elevated serum aldosterone levels.2 We report a unique eyelid abnormality resulting from PHA, which may be a valuable clue to the presence of a life-threatening disease, the diagnosis of which can only be made following complex biochemical investigation.
Report of a Case.
A full-term, 5-day-old male neonate was admitted to the special care baby unit with a white discharge from the eyes and vesicular rash on the scalp and trunk. A row of 0.5-mm white toothlike projections were noted on the margin of all 4 eyelids (Figure 1), consisting of solid columns of white material that were visible within and