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Acrodermatitis enteropathica is a rare genetic disorder that affects the body's ability to absorb zinc, a trace element essential for proper body function. Occurring mainly in post-weaning infants, this condition leads to severe zinc deficiency, causing skin lesions, gastrointestinal disorders, neurological problems and immune weakness.
Zinc plays a fundamental role in many biological processes: it is involved in protein synthesis, immune system function, wound healing and brain development. Prolonged zinc deficiency can therefore have serious health consequences.
In infants, the onset of symptoms often coincides with the cessation of breastfeeding, as breast milk contains a more easily absorbed form of zinc. Once weaning has taken place, the child's intestine is no longer able to absorb sufficient zinc from food, leading to the characteristic symptoms of the disease.
Although this disease is rare, it requires early diagnosis and treatment to avoid potentially serious complications. With appropriate management, patients can lead a normal life without long-term sequelae.
The symptoms ofacrodermatitis enteropathica are manifold, mainly affecting the skin, digestive and nervous systems. They generally appear in infants a few weeks after weaning, but can also occur later in life. Here is a detailed description of the main clinical signs:
Skin symptoms:
Gastrointestinal symptoms:
Neurological and behavioural symptoms:
Immune symptoms:
Acrodermatitis enteropathica is caused by a mutation in the SLC39A4 gene, located on chromosome 8. This gene codes for a protein called ZIP4, which plays an essential role in zinc absorption in the small intestine.
In people with this disease, mutation of the SLC39A4 gene leads to dysfunction of the ZIP4 protein, preventing the body from absorbing sufficient zinc from food. This chronic zinc deficiency causes the characteristic symptoms ofacrodermatitis enteropathica.
Transmission of this disease is autosomal recessive, meaning that the child must inherit two mutated copies of the gene (one from each parent) to develop the disease. If both parents are healthy carriers, the risk of transmitting the disease to their child is 25% with each pregnancy.
The diagnosis ofacrodermatitis enteropathica is based on a combination of clinical signs, biological analyses and genetic tests.
Treatment ofacrodermatitis enteropathica relies primarily on oral zinc supplementation, which must be continued for life to prevent recurrence of symptoms.
Zinc supplementation :
Regular medical monitoring:
Regular medical monitoring is essential to adjust the zinc dose to the patient's individual needs. Periodic blood tests help to ensure that zinc levels remain within the normal range and avoid any risk of overdosing.
Zinc-rich diet:
Although supplementation is essential, a balanced diet can complement treatment. Zinc-rich foods include red meat, seafood (especially oysters), legumes, nuts and seeds.
Yes,acrodermatitis enteropathica is an autosomal recessive genetic disease. This means that a child must inherit two mutated copies of the SLC39A4 gene (one from each parent) to develop the disease.
If both parents are healthy carriers of the defective gene, the probability of transmitting the disease to their child is :
For families with a history ofacrodermatitis enteropathica, genetic counseling may be offered before conception to assess risk and consider prenatal screening.
There is no specific prevention method to avoid the onset ofacrodermatitis enteropathica, as it is a genetic disease. However, certain measures can reduce the risk of complications:
