Living with Isolated anhidrosis with normal sweat glands
A rare genetic skin condition present from birth in which the body cannot sweat, causing heat intolerance even though sweat glands look normal.
Understanding Isolated anhidrosis with normal sweat glands
People cannot sweat from birth, which makes them very sensitive to heat. Their sweat glands look normal on a skin biopsy and are normal in number. Teeth, hair, nails, and other skin features are not affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Not sweating (anhidrosis)
- Trouble tolerating heat
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 ITPR2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
International Hyperhidrosis Society may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: International Hyperhidrosis Society
- 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 International Hyperhidrosis Society and other patient organizations
- 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 ITPR2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: anhidrosis caused by mutation in itpr2; dann-epstein-sohar syndrome; isolated generalized anhidrosis with normal sweat glands; itpr2 anhidrosis
Patient organizations
- International Hyperhidrosis SocietyIsolated anhidrosis with normal sweat glands · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
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