Acrodermatitis enteropathica is a rare skin disorder associated with zinc deficiency. Congenital and acquired forms of the condition exist. Treatment, usually involving zinc supplements, can completely resolve symptoms for most people.

The congenital form can affect 1 in 500,000 births, and symptoms may begin during infancy. Some symptoms of acrodermatitis enteropathica can include skin inflammation and blistering, hair loss, and diarrhea.

Treatment may involve high dose zinc supplements. Delaying treatment can be dangerous and, in some cases, fatal.

Keep reading to learn more about acrodermatitis enteropathica, including how doctors might diagnose and treat it. The article also discusses the causes and symptoms of acrodermatitis enteropathica in more detail.

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When the body lacks zinc, a person may develop a condition called acrodermatitis enteropathica. A person may develop low zinc levels for many reasons, including:

  • genetics
  • diet
  • alcohol use disorder
  • certain long-term health conditions

Different forms of the condition exist.

The primary form usually begins causing symptoms around the time breastfed infants are being weened off breast milk. It can occur earlier for infants receiving formula. Generally, it hinders the body’s ability to absorb zinc.

The acquired forms can occur at any age and are more common in older children, adolescents, and adults.

Zinc and the body

Zinc is a trace mineral. This means the body only requires a small amount of it to function normally.

Zinc has many functions in the body and is important for keeping the body healthy. Some of zinc’s functions include:

  • helping the immune system fight germs
  • helping heal certain skin inflammations and rashes
  • protecting eye health and vision
  • creating DNA and certain proteins in the body
  • helping the body develop and grow from a fetus through to adolescence

Infants and children with insufficient zinc levels in the body may experience:

  • diarrhea
  • slow growth rate
  • loss of appetite
  • hair loss
  • more frequent infections
  • fertility issues later in life

Loss of taste and smell can be a sign of zinc deficiency in people of any age. This deficiency can also cause problems with thinking and remembering, as well as emotional effects.

Learn more about zinc and its role in the body.

Acrodermatitis enteropathica can either be primary or acquired.

Primary acrodermatitis enteropathica

This form of acrodermatitis enteropathica is an autosomal recessive disorder. This means the condition occurs when a person inherits two copies of a mutated gene. The parent does not need to have the condition to be able to pass it on.

A mutation in the SLC39A4 gene causes acrodermatitis enteropathica. It affects the development of a protein that allows the body to absorb zinc from food and drink.

If both parents carry the mutated gene, there is a roughly 1 in 4 chance of their child having acrodermatitis enteropathica.

Acquired acrodermatitis enteropathica

There are several ways for a person to acquire acrodermatitis enteropathica. The condition can occur when there is not enough zinc in the body or when the body is unable to absorb enough zinc.

Some causes of acquired acrodermatitis enteropathica include:

  • Having a low zinc intake: This can be a result of some diets, such as a vegetarian diet, especially if a person does not ensure that they are consuming enough zinc. Also, breast milk or IV nutrients can sometimes lack zinc. Certain health conditions, including anorexia nervosa and alcohol use disorder, can cause a low zinc intake.
  • Intestinal malabsorption: “Malabsorption” is a term that describes a range of problems that affect the body’s ability to absorb nutrients. Intestinal malabsorption prevents enough zinc from being absorbed into the intestine. Conditions including inflammatory bowel disease, cystic fibrosis, and pancreatic disease can cause intestinal malabsorption.
  • Nephrotic syndrome: This is a kidney disorder that can cause too much zinc to leave the body through urine.
  • Low albumin: Albumin is a protein found in the blood, and having low albumin levels can affect zinc levels in the body.
  • High catabolic states: A person whose energy intake is less than their energy output may enter a high catabolic state. This means the body is breaking down tissues faster than it is replacing them, causing a person to lose mass. Having a high catabolic state can therefore increase the body’s need for zinc while lowering the amount of it in the body.

Both primary and acquired acrodermatitis enteropathica tend to have similar symptoms. The condition can cause cutaneous symptoms — which are those that affect the skin — and noncutaneous symptoms.

Cutaneous symptoms

Some symptoms of acrodermatitis enteropathica include:

  • Perioral rash: A horseshoe (or U-shaped) rash appears. Inflammation around the body openings — including the mouth, eyes, and anus — and skin on the elbows, knees, hands, and feet are present. Often the lesion appears as blisters that eventually dry out and appear flaky.
  • Abnormal nails: Nails may appear soft, discolored, or bumpy. Inflammation of the skin around the nails is visible.
  • Hair loss: Partial or total hair loss on the scalp, eyelashes, and eyebrows may also occur.

Noncutaneous symptoms

Some symptoms of acrodermatitis enteropathica include:

  • light sensitivity
  • loss of appetite
  • diarrhea
  • fatty substances present in the feces
  • slow or reduced growth
  • irritability or excessive crying in infants
  • low mood and emotional affect
  • decreased taste
  • decreased function of the testes

To diagnose acrodermatitis enteropathica, a doctor may test the zinc levels in the blood as well as other substances, such as alkaline phosphate and albumin. It may also be necessary to test the zinc levels in the hair and urine.

If a doctor suspects that an infant has the condition, testing the zinc levels of the parent who gave birth may be helpful.

Differential diagnosis

There are several other conditions that may produce symptoms similar to acrodermatitis enteropathica. Doctors must make a differential diagnosis, meaning they must consider what other conditions a person could have and rule them out.

Some of the conditions that may resemble acrodermatitis enteropathica include:

  • atopic eczema
  • celiac sprue, a hereditary chronic condition that can result from an intolerance to dietary gluten
  • psoriasis
  • thermal burn
  • pellagra, or niacin deficiency
  • superinfection with Candida, a yeast species

Typically, zinc supplements can treat acrodermatitis enteropathica. For the inherited form, a high dose supplement is necessary, and the individual will likely take them for the rest of their life. Having a high dose overcomes issues with zinc absorption.

For the acquired forms, a lower dose of zinc supplements can be enough to treat the condition. If any underlying condition is causing acrodermatitis enteropathica, then it should be addressed first. However, low dose zinc supplements can help bridge the gap to that.

Zinc overdose

Although it is not very common, it is possible to experience a zinc overdose. Symptoms of zinc overdose include:

  • vomiting and diarrhea
  • stomach cramps
  • lightheadedness

To avoid this, a doctor may perform regular blood tests and adjust the amount of supplementing zinc. They may initially reduce the dose to as low as possible to ensure that it is not causing any other problems in the body.

The outlook for individuals with acrodermatitis enteropathica is very positive. Zinc supplements are a highly effective treatment, with symptoms often improving within a few days to a month.

However, leaving the condition untreated can be fatal. This is more likely to occur within the first few years of life for an infant with primary acrodermatitis enteropathica.

Acrodermatitis enteropathica is a condition that can occur due to a zinc deficiency. The condition can be either inherited (congenital) or acquired, but both forms lead to similar symptoms.

Symptoms can range from skin inflammation and rashes to other noncutaneous symptoms, such as low mood and diarrhea.

Certain tests can help doctors diagnose the condition, such as checking the amount of zinc and some related substances in the body. Generally, zinc supplements can treat the condition, with most experiencing improvements in symptoms within a month.

However, if left untreated, acrodermatitis enteropathica can be life threatening.