Hypohidrotic Ectodermal Dysplasia: Causes, Symptoms, and Treatment
Written by Harsha Moole, MD. Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Hypohidrotic Ectodermal Dysplasia?
A geneticist (a doctor who treats inherited conditions) and a pediatrician (a children's doctor) often lead care. A dentist, a dermatologist (a skin doctor), and an ear, nose, and throat doctor may also help. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is hypohidrotic ectodermal dysplasia?
Hypohidrotic ectodermal dysplasia (HED) is a rare inherited condition. It is one of more than 100 types of ectodermal dysplasia. These conditions change how the skin, hair, nails, teeth, and sweat glands form before birth.
HED is the most common form of ectodermal dysplasia. It is also called Christ-Siemens-Touraine syndrome. Intellectual ability and growth are typically normal in people with HED.
Symptoms
Symptoms differ from person to person. Common signs include:
- Little or no sweating. People may have fewer sweat glands than usual, or sweat glands that do not work well. Babies and children can get repeated heat intolerance and fevers that seem to have no cause.
- Thin, sparse hair. Hair is often light-colored, brittle, and slow-growing.
- Missing teeth or teeth that are small and pointed. The teeth that are present come in later than usual.
- Dry, thin skin and eczema, which is an itchy, scaly skin rash.
- A prominent forehead, a flattened bridge of the nose, and thick lips.
- More infections of the breathing passages and more allergy problems, including wheezing, in many babies and children.
Causes and who gets it
HED is a genetic condition. It can come from changes in one of several genes. These include EDA, EDAR, EDARADD, and WNT10A. Changes in the EDA gene are the most common cause. They account for more than half of all cases. In about 10 percent of people with HED, the cause is not known.
Most cases are inherited in an X-linked pattern. This means the changed gene sits on the X chromosome, one of the two sex chromosomes. Males have only one X chromosome, so one changed copy is enough to cause HED. Females have two, so they often have milder signs. About 90 percent of people with HED are thought to be male.
Less often, HED is passed down in an autosomal dominant or autosomal recessive pattern.
How doctors diagnose it
HED is usually found in early childhood. Missing teeth and sparse hair often prompt more testing. In some babies, heat intolerance, fevers with no cause, or skin peeling lead to an earlier diagnosis.
Doctors use a careful exam, a look at physical features, and family history. They may also order special lab tests. These can include:
- A small skin sample from the palm, which is checked under a microscope for sweat glands.
- Dental x-rays, which show missing teeth and other tooth differences.
- Gene testing for changes in the EDA, EDAR, and EDARADD genes, which can confirm the diagnosis.
Treatment
Treatment aims at the specific symptoms each person has. Care may need a team. The team can include pediatricians or internists, dermatologists, dental specialists, ear, nose, and throat doctors, and allergists.
Keeping cool is a key part of care. Doctors may watch babies and young children closely. For children and adults, protective steps include:
- Avoiding hard physical effort.
- Staying out of high heat.
- Drinking large amounts of fluids in warm weather.
- Using cool cloths, sponge baths, and air conditioning.
If possible, people with HED should live in a cool climate.
Artificial teeth, braces, bridges, or dental surgery may be used to replace or correct teeth and help with eating and nutrition. Wigs or hairpieces may help people with hair loss. Doctors also watch for breathing infections so they can be treated quickly.
Genetic counseling helps affected children and their families.
When to see a doctor
See a doctor if your baby or child has repeated fevers with no clear cause, seems to sweat very little, or has missing teeth or very sparse hair. Heat intolerance and unexplained fevers can be early clues.
Overheating can be serious in HED. In some cases, a very high body temperature can cause life-threatening health problems.
Call 911 or go to the emergency room if someone has a dangerously high body temperature, severe trouble breathing, faints, has a seizure, or has a sudden change in mental state, such as confusion.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either kind of doctor can help review ways to prevent overheating, watch for infections, and refer you to a geneticist, a dentist, or a skin doctor. They can also help coordinate care over time.
Common questions
Can people with HED sweat?
Most people with HED sweat less than usual, and some barely sweat at all. They have fewer sweat glands than normal, or sweat glands that do not work properly.
Does HED affect intelligence?
No. Intellectual ability and growth are typically normal in people with HED. The condition mainly affects the skin, hair, nails, teeth, and sweat glands.
Can girls and women have HED?
Yes, but their signs are usually milder. Females who carry one changed copy of the X-linked gene may have a few missing or abnormal teeth, sparse hair, and mild trouble with sweating.
How do people with HED stay cool?
Cooling steps help prevent overheating. These include air conditioning, cool cloths, sponge baths, and plenty of fluids in warm weather. Avoiding hard physical effort and high heat also helps.
Sources
- MedlinePlus Genetics - Hypohidrotic ectodermal dysplasia
- National Organization for Rare Disorders (NORD) - Hypohidrotic Ectodermal Dysplasia
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
