Isolated hyperchlorhidrosis

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Synonyms: Carbonic anhydrase XII deficiency

A rare genetic skin disease characterized by excessive salt wasting in sweat leading to hyponatremic dehydration hyperkalemia and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia hyperkalemia increased aldosterone and increased sweat chloride concentrations.

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 July 2024

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Isolated hyperchlorhidrosis?

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