Acrodermatitis Enteropathica

Acrodermatitis Enteropathica: A Rare Genetic Zinc Absorption Disorder

Acrodermatitis enteropathica is a rare, inherited condition that affects the body's ability to absorb zinc, an essential mineral required for healthy skin, immune function, growth, and neurological development. It typically presents in infants and young children, and if left untreated, can be life-threatening.

What Causes Acrodermatitis Enteropathica?

This condition is genetically inherited in an autosomal recessive pattern. It results from a mutation that impairs the intestinal absorption of zinc. Although rare, people without the genetic mutation can also develop symptoms of zinc deficiency due to poor dietary intake or absorption issues.

Signs and Symptoms

The symptoms closely mirror those of severe zinc deficiency and usually appear within weeks after birth, particularly in bottle-fed infants or shortly after weaning in breastfed babies. Both males and females are equally affected.

Common symptoms include:

• Red, inflamed, and scaly skin (especially around body openings like the mouth, eyes, anus)

• Lesions on hands, elbows, knees, and feet (may resemble eczema or form crusted blisters and pustules)

• Hair loss or thinning

• Delayed growth and development

• Chronic diarrhea

• Irritability, mental sluggishness, or mood changes

• Swollen or reddened skin around fingernails

These symptoms may be aggravated by secondary infections with bacteria (like Staphylococcus aureus) or fungi (Candida albicans).

Diagnosis

Diagnosis is based on:

• Low serum zinc levels

• Characteristic skin lesions

• Improvement with zinc supplementation

• Skin biopsy, if needed, to rule out other conditions

Treatment

The cornerstone of treatment is lifelong zinc supplementation, which often leads to complete remission of symptoms in genetically affected individuals.

Zinc Supplementation:

• Dosage: Typically 30–150 mg daily, depending on the individual’s age and condition severity

• Form: Zinc gluconate or zinc sulfate is preferred for better absorption

• Monitoring: Regular blood tests (every 3–6 months) to ensure therapeutic zinc levels and avoid potential side effects like copper deficiency, anemia, or dizziness

Note: Only trained healthcare professionals should adjust dosage or treatment.

Additional Supportive Measures

While zinc supplementation is the primary treatment, additional strategies can enhance recovery and comfort:

1. Dietary Zinc Sources

While diet alone isn't sufficient for those with acrodermatitis enteropathica, zinc-rich foods can offer added support:

• Shellfish: Oysters, crab

• Red meat: Beef, liver, pork

• Poultry: Chicken, turkey

• Legumes: Chickpeas, baked beans

• Nuts & seeds: Pumpkin seeds, almonds, cashews, Brazil nuts

• Whole grains

Zinc content in food generally correlates with protein content, so high-protein diets are helpful.

2. Skin Care

• Warm compresses can gently loosen crusts from lesions.

• Apply white petroleum jelly to affected areas to support healing and re-epithelialization, especially when used with zinc therapy.

• Topical skin ointments with healing properties may promote cell regeneration.

3. Managing Secondary Infections

• Antibiotics or antifungal treatments may be necessary for infected lesions.

4. Mood and Brain Health

Zinc also supports mental well-being—adequate levels can improve mood, reduce irritability, and enhance cognitive function.

Potential Complications and Monitoring

If untreated, acrodermatitis enteropathica can lead to:

• Severe malnutrition

• Neurological decline

• Fatality in early childhood

Because long-term high-dose zinc can interfere with copper absorption, regular monitoring is vital to prevent nutrient imbalances.

Herbs and Additional Nutritional Support

Although not a substitute for zinc therapy, some patients have used the following to support skin health and overall recovery:

• Vitamin A – Enhances skin integrity

• Vitamin C & E – Antioxidants that promote wound healing and skin regeneration

• Topical emollients and natural skin ointments – To soothe irritation and support recovery

The Role of Gene Therapy

While gene therapy trials have shown early promise, there is currently no definitive cure for this genetic disorder. Research is ongoing, and future treatments may one day correct the root genetic cause.

Key Takeaways

• Acrodermatitis enteropathica is a rare but serious inherited condition caused by impaired zinc absorption.

• Zinc supplementation is essential and often life-saving.

• Symptoms can dramatically improve within 5–10 days of starting treatment.

• Ongoing medical supervision ensures treatment is effective and safe.

• Supporting skin health, avoiding infections, and ensuring dietary support can all enhance quality of life.