Living with Ectodermal dysplasia and immune deficiency
An inherited condition with differences in skin, hair, teeth, and sweating, plus a weakened immune system that leads to frequent infections.
Understanding Ectodermal dysplasia and immune deficiency
Signs are evident soon after birth. Children have dry or wrinkled skin, sparse hair, missing or small pointed teeth, and a reduced ability to sweat, which can lead to overheating. The immune problems vary, but many children make low levels of antibodies, which makes it hard to fight infections.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated bacterial infections
- Reduced ability to sweat (hypohidrosis)
- Sparse hair
- Cone-shaped teeth
- Chronic diarrhea
- Poor weight gain and slow growth
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 allergy and immune system specialists, eye disease specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias, Immune Deficiency Foundation
- 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 National Foundation for Ectodermal Dysplasias 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
GARD says changes in a person's genes cause this condition. It can be autosomal dominant or X-linked.
Also known as: anhidrotic ectodermal dysplasia with immune deficiency; anhidrotic ectodermal dysplasia with immunodeficiency; eda-id; hed-id; hypohidrotic ectodermal dysplasia with immune deficiency; hypohidrotic ectodermal dysplasia with immunodeficiency
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasia and immune deficiency · United States
- Jeffrey Modell FoundationEctodermal dysplasia and immune deficiency · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ectodermal dysplasia and immune deficiency.
Explore research for Ectodermal dysplasia and immune deficiency
Explore actively recruiting Ectodermal dysplasia and immune deficiency studies with HealthSpark.
Find actively recruiting studies for Ectodermal dysplasia and immune deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Ectodermal dysplasia and immune deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Ectodermal dysplasia and immune deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Ectodermal dysplasia and immune deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.