Unique eyelid manifestations in type 1 pseudohypoaldosteronism Physical examination was normal except for the eyelid fi ndings as evident in fi gure 1. Prominent white projections on the margin of all four eyelids represent abnormal sebum collection resulting from the sodium channel defect in PHA1. Also noted was dry, rough and a parchment-like skin texture.To summarise, autosomal-recessive PHA 1 is a condition that results in a life-threatening electrolyte and acidbase imbalance during the immediate neonatal period. The noted association of this condition with the characteristic physical sign visible at birth might facilitate a lifesaving early diagnosis.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.