Acrodermatitis enteropathica (AE) is a rare genetic disorder that affects the body’s ability to absorb zinc from the diet. Zinc is an essential mineral that plays a crucial role in many bodily processes, including immune function, wound healing, and growth and development. Without adequate zinc, individuals with AE may experience a range of symptoms affecting the skin, gastrointestinal tract, and immune system.
The most characteristic feature of AE is a rash that typically appears around the mouth, anus, and other areas of the body with folds or creases. The rash may be red, scaly, and blistering, and may become infected. Other skin-related symptoms may include hair loss, skin discoloration, and nail abnormalities.
Individuals with AE may also experience gastrointestinal symptoms such as diarrhea, vomiting, and abdominal pain, which can lead to malnutrition and growth failure if left untreated. In addition, the immune system may be compromised, leading to recurrent infections.
AE is caused by mutations in the SLC39A4 gene, which is responsible for producing a protein that helps transport zinc into the body’s cells. Without this protein, zinc cannot be properly absorbed, leading to the symptoms of AE.
Treatment for AE typically involves lifelong zinc supplementation to ensure adequate levels of the mineral in the body. This can help improve the skin and gastrointestinal symptoms associated with the condition, as well as support normal growth and development. In some cases, additional therapies such as antibiotics or immune-boosting medications may be used to manage symptoms.
While AE is a rare condition, early diagnosis and treatment are important to prevent complications and ensure the best possible outcomes. If you or someone you know is experiencing symptoms of AE, it is important to consult with a healthcare professional for proper evaluation and management.