Isolated generalized anhidrosis with normal sweat glands

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ORPHA:468666OMIM:106190L98.8
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8Treatment centers

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Overview

Isolated generalized anhidrosis with normal sweat glands is an extremely rare condition in which a person is unable to sweat (anhidrosis) across most or all of their body, even though the sweat glands themselves appear structurally normal when examined under a microscope. Sweating is the body's main way of cooling down, so people with this condition are at serious risk of overheating (hyperthermia), especially during exercise, hot weather, or fever. Unlike other forms of anhidrosis where the sweat glands are absent, reduced in number, or damaged, in this condition the glands are present and look normal but simply do not function properly. The underlying problem is thought to involve a defect in the signaling pathway that tells the sweat glands to produce sweat, rather than a problem with the glands themselves. Symptoms typically include heat intolerance, flushing of the skin, and episodes of dangerously elevated body temperature. Some patients may experience itching, prickling sensations, or skin redness when they become warm. Because the condition is so rare, there is no specific cure. Treatment focuses on preventing overheating through lifestyle modifications such as avoiding hot environments, wearing cooling garments, staying well hydrated, and using external cooling methods. In some reported cases, medications that promote sweating (cholinergic agents) have been tried with variable success. Early recognition is important to prevent heat-related emergencies, which can be life-threatening.

Key symptoms:

Inability to sweat (anhidrosis)Heat intoleranceOverheating during exercise or warm weatherSkin flushing or redness when hotEpisodes of dangerously high body temperaturePrickling or tingling sensation on the skin when warmItchy skin triggered by heatDry skinFatigue in warm environmentsDizziness or lightheadedness from overheatingRapid heartbeat during heat exposure

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Isolated generalized anhidrosis with normal sweat glands.

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No actively recruiting trials found for Isolated generalized anhidrosis with normal sweat glands at this time.

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No specialists are currently listed for Isolated generalized anhidrosis with normal sweat glands.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Isolated generalized anhidrosis with normal sweat glands.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What tests will confirm that my sweat glands are normal but not functioning?,Are there any medications that might help stimulate sweating in my case?,What is my risk of heat stroke, and how should I prepare for emergencies?,Should I undergo genetic testing to look for an underlying cause?,What accommodations should I request at school or work?,Are there any clinical trials or research studies I could participate in?,How often should I follow up, and what should I monitor at home?

Common questions about Isolated generalized anhidrosis with normal sweat glands

What is Isolated generalized anhidrosis with normal sweat glands?

Isolated generalized anhidrosis with normal sweat glands is an extremely rare condition in which a person is unable to sweat (anhidrosis) across most or all of their body, even though the sweat glands themselves appear structurally normal when examined under a microscope. Sweating is the body's main way of cooling down, so people with this condition are at serious risk of overheating (hyperthermia), especially during exercise, hot weather, or fever. Unlike other forms of anhidrosis where the sweat glands are absent, reduced in number, or damaged, in this condition the glands are present and lo