Acrodermatitis Enteropathica

What else is it called?

  • AE
  • Brandt Syndrome
  • Danbolt-Cross Syndrome
  • Zinc Deficiency, Congenital

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What causes it?

This condition is due to a problem in the SLC39A4 gene. The gene provides instructions for a protein called the Zip4 transporter. This protein is needed by your body to absorb zinc into the intestine before it goes on to be transported into the bloodstream. A problem in the SLC39A4 gene means that not enough of the Zip4 transporter protein is produced and are therefore unable to absorb the amount of zinc that your body needs. This is called zinc malabsorption.

How common is it?

This condition affects around 1 in every 500,000 people. Males and Females are affected in equal numbers and it does not have an increased prevalence amongst.

What are the signs and symptoms?

In infants who have not been breast-fed, signs and symptoms of this condition generally occur within the first 4-10 weeks of life. In breast-fed infants, signs and symptoms begin to occur around the time of weaning. Symptoms can vary in severity.

One of the primary features of this condition is pink scaly plaques on the skin which resemble eczema and often develop around the mouth and anus. They may also develop around the eyes, and on the joints. These can blister and then appear as pimple-like spots. Without treatment, progress to open sores which can are susceptible to infections.

Other symptoms may include:

  • Diarrhoea
  • Hair loss
  • Reduced height
  • Weight loss, loss of appetite
  • Underdeveloped nails, horizontal grooves on the nails (Beau-Reil lines)
  • Infections around the nails
  • Conjunctivitis
  • Red swollen and itchy eyelids (blepharitis)
  • Mouth ulcers
  • Failure to grow and gain weight at the expected rate (failure to thrive)
  • Slow thought processes
  • Aversion to light (photophobia)
  • Reduced ability to taste things
  • Low levels of circulating red blood cells (anaemia)
  • Slow healing of wounds
  • Delayed puberty
  • Impaired immune function, recurrent infection
  • Changes in mood, irritability, emotional disturbances
  • Grooved or inflamed tongue
  • Inflamed lips
  • Small testes, fertility problems in males.
  • Enlarged liver and/or spleen
  • Tremors

Symptoms can spontaneously improve in the teenage years. This remission can be for a long period of time. In some rare cases, the condition can appear again during pregnancy.

How is it diagnosed?

This disorder can be diagnosed on recognition of the symptoms and is confirmed by blood tests which show low zinc levels and a rapid response to zinc supplementation. In rare cases, blood zinc levels may be normal.

Can it be treated?

There is no cure for this condition and therefore treatment is lifelong. Treatment involves zinc supplementation which is taken orally. In most cases, this treatment will resolve the symptoms of this condition within a few days to weeks. Regular follow ups are important to ensure that you are regularly monitored and to allow the treatment dosage to be altered when required. Prognosis is excellent if the treatment and management is correctly followed. This condition can be fatal if left untreated.

Do my family need to be tested?

Humans have chromosomes composed of DNA. Genes are pieces of DNA that carry the genetic instruction. Each chromosome may have several thousand genes. We inherit particular chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instructions that determine a person’s characteristics, which are a combination of the parents.

In most cases, this is an inherited condition. However, sometimes it can occur sporadically. There is nothing that could have been done to prevent it.

Everyone has a pair of genes that are needed to make the Zip4 transporter protein. In children with this condition, neither of these genes works correctly. These children inherit one non-working gene from each parent.

Parents of children with this condition are known as carriers of the condition. Carriers do not have the disorder because the other gene of this pair is working correctly.

When both parents are carriers, in each pregnancy the risk to the baby is as follows:

  • 25% chance (1 in 4) of developing this condition
  • 50% chance (1 in 2) for the baby to be a carrier of this condition
  • 25% chance (1 in 4) for the baby to have two working genes and neither have this condition nor be a carrier

Relevant Organisations


References are available on request. Please contact us by phoning 0845 241 2173 or emailing [Resource Library No: ATEM08].

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