Acrodermatitis Enteropathica
What is Acrodermatitis Enteropathica?
Acrodermatitis enteropathica is a rare inherited disorder that affects how your body absorbs zinc. Your digestive system cannot properly take in zinc from the foods you eat. This leads to dangerously low zinc levels throughout your body.
The condition is caused by mutations in a gene called SLC39A4. This gene controls a protein that transports zinc across the intestinal wall. Without enough zinc, many body systems struggle to function normally. Zinc plays a key role in immune function, wound healing, cell growth, and skin health.
The disorder typically appears in infants after they stop breastfeeding. Breast milk contains zinc in a form that babies can absorb more easily. Once that source is removed, symptoms develop quickly. Without treatment, the condition can lead to serious health problems and even become life threatening.
Symptoms
- Red, scaly rash around the mouth, eyes, and genital area
- Hair loss on the scalp, eyebrows, and eyelashes
- Chronic diarrhea and digestive problems
- Slow wound healing and frequent skin infections
- White spots or discoloration on fingernails
- Loss of appetite and poor weight gain
- Irritability and mood changes
- Delayed growth and development in children
- Weakened immune system with frequent infections
- Eye problems including light sensitivity
Symptoms usually appear within a few weeks to months after birth. The characteristic skin rash, diarrhea, and hair loss often occur together. These three symptoms form the classic triad that doctors look for when diagnosing this condition.
Concerned about Acrodermatitis Enteropathica? Check your levels.
Screen for 1,200+ health conditions
Causes and risk factors
Acrodermatitis enteropathica is caused by inherited mutations in the SLC39A4 gene. This gene provides instructions for making a protein that helps absorb zinc from food in your intestines. When both copies of this gene are mutated, the protein does not work properly. Zinc cannot move from your digestive tract into your bloodstream.
The disorder follows an autosomal recessive pattern. This means both parents must carry one copy of the mutated gene. Each child of two carriers has a 25 percent chance of inheriting both mutated genes and developing the condition. Parents who are carriers typically have no symptoms themselves because one working copy of the gene is enough for normal zinc absorption.
How it's diagnosed
Doctors diagnose acrodermatitis enteropathica by measuring zinc levels in your blood. Serum zinc testing shows markedly decreased levels in people with this condition. The diagnosis becomes clear when low zinc levels occur alongside the characteristic symptoms of skin rash, diarrhea, and hair loss.
Rite Aid offers serum zinc testing as an add-on to our blood testing panel. This test measures the amount of zinc circulating in your bloodstream. Getting tested helps confirm the diagnosis and monitor whether treatment is working. Your doctor may also order genetic testing to identify mutations in the SLC39A4 gene. Early diagnosis matters because zinc supplementation can reverse symptoms quickly.
Treatment options
- High-dose zinc supplementation taken daily, typically zinc sulfate or zinc gluconate
- Regular blood tests to monitor zinc levels and ensure proper dosing
- Dietary adjustments to include zinc-rich foods like meat, shellfish, and legumes
- Skin care with gentle moisturizers to manage rash and irritation
- Treatment of secondary skin infections with antibiotics when needed
- Lifelong zinc supplementation to maintain normal levels
- Regular check-ups with a specialist to monitor growth and development
- Nutritional support to address any deficiencies caused by chronic diarrhea
Need testing for Acrodermatitis Enteropathica? Add it to your panel.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Acrodermatitis enteropathica is caused by inherited mutations in the SLC39A4 gene. This gene controls a protein that absorbs zinc from food in your intestines. When both copies of the gene are mutated, your body cannot properly absorb zinc from your diet, leading to severe zinc deficiency.
Symptoms usually appear in infants within a few weeks to months after they stop breastfeeding. Breast milk contains zinc in a form that is easier for babies to absorb. Once breastfeeding ends and the baby relies on formula or solid foods, zinc deficiency symptoms develop quickly.
The classic triad includes a distinctive red scaly rash around body openings, chronic diarrhea, and hair loss. The rash typically appears around the mouth, eyes, and diaper area. These three symptoms occurring together strongly suggest acrodermatitis enteropathica and should prompt immediate medical evaluation.
Doctors diagnose the condition by measuring serum zinc levels through a blood test. Markedly low zinc levels combined with the characteristic symptoms confirm the diagnosis. Genetic testing can identify mutations in the SLC39A4 gene to provide additional confirmation.
Acrodermatitis enteropathica cannot be cured because it is a genetic disorder. However, it can be effectively managed with lifelong zinc supplementation. Most people who receive proper treatment live normal, healthy lives with few complications once zinc levels are maintained in the normal range.
Without treatment, acrodermatitis enteropathica can lead to severe complications and become life threatening. Untreated children experience failure to thrive, severe infections, and developmental delays. The immune system becomes severely weakened, making the body vulnerable to dangerous infections.
Zinc supplementation works remarkably fast in most cases. Many symptoms begin to improve within days of starting treatment. The skin rash typically starts clearing within one to two weeks, and hair regrowth begins within a few months of maintaining normal zinc levels.
Yes, acrodermatitis enteropathica follows an autosomal recessive inheritance pattern. Both parents must be carriers of a mutated gene for a child to develop the condition. If both parents are carriers, each child has a 25 percent chance of inheriting the disorder.
Regular blood testing is important to ensure zinc supplementation is working properly. Initial monitoring may happen every few weeks until levels stabilize. Once stable, testing every three to six months helps ensure zinc levels remain in the healthy range and supplementation doses are appropriate.
Yes, people with acrodermatitis enteropathica can eat a normal diet with zinc supplementation. While eating zinc-rich foods is encouraged, dietary zinc alone cannot correct the absorption problem. High-dose zinc supplements are necessary to bypass the intestinal absorption defect and maintain healthy zinc levels throughout life.