Acrodermatitis Enteropathica
Description
Acrodermatitis enteropathica (AE) is a rare, inherited disorder affecting the skin, digestive system, and immune system. It is characterized by severe, persistent diarrhea, skin lesions, and hair loss. These symptoms arise from a deficiency in zinc, a vital mineral that plays a crucial role in various bodily functions. This blog explores AE, including its causes, symptoms, diagnosis, management, and how individuals can thrive despite this condition.
Genes Involved
Genes Involved:
Acrodermatitis enteropathica is caused by mutations in the SLC39A4 gene. This gene provides instructions for making a protein that helps transport zinc into cells. When this gene is mutated, the body cannot absorb zinc properly, leading to zinc deficiency.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms:
- Skin Lesions: AE often manifests with scaly, red, and weeping lesions around the mouth, eyes, anus, and genitals. These lesions can be itchy and painful.
- Diarrhea: Persistent and severe diarrhea is a common symptom. It can lead to dehydration and malnutrition.
- Hair Loss: Hair loss, especially on the scalp and eyebrows, is another noticeable symptom.
- Impaired Growth and Development: Children with AE may experience slowed growth and developmental delays due to zinc deficiency.
- Other Symptoms: Other possible symptoms include immune deficiency, frequent infections, and impaired wound healing.
Causes
Causes:
AE is an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated SLC39A4 gene for their child to inherit the condition. If both parents carry the mutated gene, there is a 25% chance that their child will inherit AE.
Inheritance/recurrence risk
Inheritance or Recurrence Risk:
Since AE is inherited in an autosomal recessive manner, there is a 25% chance for each child of a couple with the mutated gene to inherit AE. Genetic counseling can help families understand their risk of having a child with AE.
