Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

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Synonyms: HELIX syndrome

A rare genetic disease characterized by abnormalities in renal ion transport ectodermal gland homeostasis and epidermal integrity resulting in generalized hypohidrosis heat intolerance salt-losing nephropathy electrolyte imbalance lacrimal gland dysfunction ichthyosis and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia hypokalemia hypercalcemia and hypocalciuria.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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