Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis and xerostomia syndrome caused by a novel claudin-10 variant in an adult with hypokalaemic metabolic alkalosis.

A man presenting with low potassium levels and features initially resembling Gitelman syndrome was found through genetic testing to have HELIX syndrome caused by a novel claudin-10 mutation, which also explained his concurrent dry eyes, reduced sweating, and severe tooth decay.

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