ACRODERMATITIS ENTEROPATHICA

TYPES

Acrodermatitis enteropathica (AE) can be categorized into two main types based on the underlying cause:

1. Congenital AE: This type of AE is present at birth and is caused by an inherited mutation in the SLC39A4 gene. The SLC39A4 gene is responsible for producing a protein called ZIP4, which is involved in the absorption of zinc from the diet. Mutations in this gene lead to impaired zinc absorption, resulting in zinc deficiency and the characteristic symptoms of AE. Congenital AE is usually inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

2. Acquired AE: Acquired AE is a rare form of the condition that occurs later in life and is not caused by a genetic mutation. It can be associated with various underlying conditions that affect zinc absorption, such as inflammatory bowel disease (Crohn’s disease or ulcerative colitis), celiac disease, short bowel syndrome, or certain gastrointestinal surgeries. In acquired AE, the impaired zinc absorption leads to zinc deficiency and the development of AE symptoms.

Both types of AE share similar clinical features, including skin manifestations, gastrointestinal symptoms, and immune system dysfunction. The treatment for both types involves zinc supplementation to correct the zinc deficiency.

SYMPTOMS

Acrodermatitis enteropathica (AE) is characterized by several key symptoms that affect the skin, gastrointestinal system, and immune system. Here are some common symptoms associated with AE:

1. Dermatological manifestations: One of the hallmark symptoms of AE is a distinctive rash that typically appears on the extremities, including the hands, feet, and periorificial areas (around the mouth, eyes, and nose). The rash may present as red, scaly patches, blisters, pustules, or erosions. It can be accompanied by skin inflammation, crusting, and itching.

2. Gastrointestinal symptoms: Individuals with AE may experience gastrointestinal issues, including diarrhea, poor appetite, abdominal pain, and malabsorption of nutrients. The malabsorption can lead to weight loss, failure to thrive, and delayed growth and development. Nutrient deficiencies, particularly zinc deficiency, can further contribute to gastrointestinal symptoms.

3. Immunological issues: Zinc plays a vital role in immune function, and individuals with AE often have compromised immune systems. This can make them more susceptible to infections, especially of the respiratory and gastrointestinal tracts. Recurrent infections, such as pneumonia or gastrointestinal infections, are common in individuals with AE.

4. Oral and perioral manifestations: In addition to the rash around the mouth, individuals with AE may also experience oral symptoms, such as a swollen, red tongue (glossitis), mouth ulcers, and angular cheilitis (cracks or sores at the corners of the mouth).

It’s important to note that the severity and specific combination of symptoms can vary among individuals with AE. If you or someone you know is experiencing any of these symptoms, it is essential to consult with a healthcare professional for a proper evaluation, diagnosis, and management of AE.

DIAGNOSIS

The diagnosis of acrodermatitis enteropathica (AE) typically involves a combination of clinical evaluation, medical history assessment, and laboratory testing. Here are some key steps involved in the diagnosis process:

1. Clinical evaluation: A healthcare professional will perform a thorough physical examination, paying close attention to the characteristic skin manifestations of AE, such as the rash on the extremities and periorificial areas. They will also assess for other associated symptoms, such as gastrointestinal issues or immune system dysfunction.

2. Medical history assessment: The healthcare professional will inquire about the individual’s medical history, including any family history of AE or similar conditions. They may ask about the onset and progression of symptoms, any recent dietary changes, or underlying gastrointestinal disorders.

3. Laboratory testing: Various laboratory tests can help support the diagnosis of AE. These may include:

• Zinc level assessment: Blood tests can measure the levels of zinc in the individual’s body. Low zinc levels are a hallmark of AE.
• Genetic testing: In cases of suspected congenital AE, genetic testing may be performed to identify mutations in the SLC39A4 gene responsible for zinc absorption.
• Other nutrient levels: Additional blood tests may be conducted to assess the levels of other nutrients, such as copper or iron, as deficiencies in these nutrients can sometimes present similarly to AE.

4. Response to zinc supplementation: A definitive diagnosis of AE can often be confirmed when an individual shows a positive response to zinc supplementation. Improvement in symptoms, including the resolution of the skin rash and gastrointestinal issues, after zinc therapy can be highly indicative of AE.

TREATMENT

The primary treatment for acrodermatitis enteropathica (AE) involves zinc supplementation to correct the underlying zinc deficiency. Here are some key aspects of AE treatment:

1. Zinc supplementation: The mainstay of AE treatment is to provide zinc supplementation in the form of oral zinc salts, such as zinc sulfate or zinc gluconate. The dosage will depend on the individual’s age, weight, and severity of symptoms. It is important to follow the prescribed dosage and duration as advised by a healthcare professional.

2. Nutritional support: Along with zinc supplementation, ensuring adequate nutrition is essential for individuals with AE. A well-balanced diet, including foods rich in zinc, such as meat, seafood, legumes, and whole grains, is recommended. In cases where there are difficulties in oral intake or severe malabsorption, enteral or parenteral nutrition may be considered.

3. Monitoring and follow-up: Regular monitoring of zinc levels and clinical symptoms is crucial to assess the effectiveness of treatment and make necessary adjustments. Healthcare professionals may also monitor other nutrient levels, such as copper or iron, and address any deficiencies.

4. Supportive care: In addition to zinc supplementation, supportive care may be needed to manage symptoms and complications associated with AE. This may include the use of topical treatments, such as emollients or barrier creams, to alleviate skin symptoms. Gastrointestinal symptoms, if present, may require additional management, such as dietary modifications or medication.

It is important to note that AE is a lifelong condition, and ongoing zinc supplementation is typically necessary to maintain adequate zinc levels and manage symptoms. Regular follow-up visits with a healthcare professional are essential to monitor progress, adjust treatment as needed, and address any concerns or complications that may arise.