Living with Isolated hyperchlorhidrosis
An inherited condition in which sweat contains too much salt, which can lead to dehydration and low sodium, especially in babies.
Understanding Isolated hyperchlorhidrosis
Sweat has high levels of chloride, so the body loses salt and has low sodium. Most infants have one or more episodes of dehydration with low blood sodium, which can require hospital care. These usually follow a mild illness with vomiting or diarrhea. Babies may feed poorly and grow slowly, but weight and height usually catch up by early childhood. Salt loss continues, so low sodium can still be a concern with heavy sweating, such as in warm weather or exercise.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow weight gain (failure to thrive)
- Feeding difficulties
- Dehydration
- Very salty sweat
- Low blood sodium
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CA12 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CA12 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: carbonic anhydrase xii deficiency; hyperchlorhidrosis, isolated
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Isolated hyperchlorhidrosis.
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