Living with Hereditary acrodermatitis enteropathica
An inherited zinc absorption problem that causes a skin rash, diarrhea, and nail changes in infants.
Understanding Hereditary acrodermatitis enteropathica
Low zinc can cause a rash with pustules around the mouth or anus, diarrhea, and abnormal nails. Irritability and emotional changes can also occur. It starts in the newborn period or infancy. GARD says an acquired form can also come from diets without enough zinc.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin rash with blisters
- Long-lasting diarrhea
- Hair loss (alopecia)
- Abnormal or ridged nails
- Sore lips and tongue
- Slow weight gain (failure to thrive)
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 digestive system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SLC39A4 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
- Digestive system specialists (gastroenterologists); 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
It is caused by changes in the SLC39A4 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acrodermatitis enteropathica; acrodermatitis enteropathica, zinc deficiency type; ae - acrodermatitis enteropathica; aez; brandt syndrome; danbolt-close syndrome
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 Hereditary acrodermatitis enteropathica.
Explore research for Hereditary acrodermatitis enteropathica
Explore actively recruiting Hereditary acrodermatitis enteropathica studies with HealthSpark.
Find actively recruiting studies for Hereditary acrodermatitis enteropathica 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 Hereditary acrodermatitis enteropathica 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 Hereditary acrodermatitis enteropathica
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 Hereditary acrodermatitis enteropathica 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.