Row of teeth appearance in pseudohypoaldosteronism type 1: a case report

Abstract

Background This case report describes a unique presentation of systemic pseudohypoaldosteronism type 1 (PHA-1) in a neonate, highlighting the �row of teeth� appearance on the eyelid margins and cutaneous salt crystal deposition as early diagnostic clues. Case presentation A 10-day-old Yemeni male neonate presented with lethargy, poor feeding, recurrent vomiting, and signs of severe dehydration. Notable findings included erythema and lacrimation around the eyes, a white granular discharge resembling a �row of teeth� at the base of the eyelashes, and cutaneous salt crystals. The diagnosis of systemic PHA-1 was based on elevated serum renin and aldosterone levels and was subsequently confirmed by genetic analysis, which revealed a pathogenic frameshift variant in the SCNN1A gene (c.148del; p. Glu50SerfsTer33). Management included intravenous fluid administration, sodium supplementation, and potassium-lowering therapies. Conclusions This case highlights the importance of reauthor names: Kindly check the author names are processed correctly. Please check if appropriate. Author names: Kindly check the author names are processed correctly. Please check if appropriate: cognizing the atypical ophthalmic and cutaneous manifestations of PHA-1, which can facilitate early diagnosis and prevent life-threatening complications.