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Isolated hyperchlorhidrosis

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Disease definition

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.

ORPHA:542657

Classification level: Disorder

Synonym(s):
  • Carbonic anhydrase XII deficiency

Source: PubMed ID 21035102

Prevalence: <1 / 1 000 000

Inheritance: Autosomal recessive

Age of onset: Infancy

ICD-10: L98.8

OMIM: 143860

UMLS: C1840437

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Guidelines
Emergency guidelines
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