What are the other Names for this Condition? (Also known as/Synonyms)

• Acrodermatitis Enteropathy
• Brandt Syndrome
• Primary Zinc Malabsorption Syndrome

What is Acrodermatitis Enteropathica? (Definition/Background Information)

• Acrodermatitis Enteropathica (AE) is described as a deficiency disorder that develops due to disruption in the metabolism and uptake of the mineral zinc
• Zinc is a mineral found in all bodily tissues, but is especially concentrated in the eye, bone, and the male reproductive organs. It plays a key role in many body functions
• Acrodermatitis Enteropathica may be congenital/inherited or acquired (during adulthood). It manifests as severe skin symptoms, such as rashes on the skin and mucosal surfaces, hair loss, and chronic diarrhea
• Complications of the condition may include developmental delays, physical and mental growth retardation, liver abnormalities, and depression
• The treatment of Acrodermatitis Enteropathica is centered on providing proper zinc supplementation. Addressing zinc deficiency in the body generally results in resolution of the symptoms
• With appropriate zinc therapy, the prognosis of Acrodermatitis Enteropathica is good. However, a delay in treatment or lack of proper treatment may severely affect the outcome

Who gets Acrodermatitis Enteropathica? (Age and Sex Distribution)

• Acrodermatitis Enteropathica is an uncommon condition that may be seen in newborn infants and children (inherited form). It is uncommon in adults, but may occur due to zinc deficiency (acquired form)
• No particular gender preference for males or females is noted; both are equally affected
• All racial and ethnic groups are at equal risk for the condition

What are the Risk Factors for Acrodermatitis Enteropathica? (Predisposing Factors)

• The risk factor for inherited forms of Acrodermatitis Enteropathica is a positive family history of the condition
• The acquired form of Acrodermatitis Enteropathica is typically due to a lack of sufficient zinc mineral in one’s diet, an underlying condition affecting the kidney or liver, or due to other factors (such as a surgery or trauma)
• Infants on restricted diets without adequate zinc supplementation were among the first to be investigated for the  zinc deficiency findings above
• Children with cystic fibrosis are more likely to develop zinc deficiency
• Adults with poor diet
• Excessive alcohol intake

What are the Causes of Acrodermatitis Enteropathica? (Etiology)

Acrodermatitis Enteropathica is a metabolic disorder that affects the intake of zinc, which is an important mineral essential for many healthy bodily functions. The condition may be familial or acquired.

• The familial form of Acrodermatitis Enteropathica is transmitted as an autosomal recessive condition. Mutations on the SLC39A4 gene is reported to cause the condition, which hampers the absorption of zinc in the body
• The symptoms of acquired Acrodermatitis Enteropathica develop due to inadequate dietary zinc intake. It may also occur due to an underlying condition, such as kidney disease, inflammatory bowel disease, liver cirrhosis, or even anorexia nervosa. The disorder may be seen associated with a major surgery, trauma, or extensive burns
• Many forms of chronic or severe diarrhea can lead to zinc deficiency. The zinc in pancreatic enzymes cannot be properly reabsorbed through the gut with the rapid transit of diarrhea. After the deficiency is established, the pancreatic enzymes, which require zinc to function, lead to further poor absorption and a cycle of yet more diarrhea

What are the Signs and Symptoms of Acrodermatitis Enteropathica?

The signs and symptoms of Acrodermatitis Enteropathica may include:

• Dermatitis or development of red skin rashes and inflammation, typically around the mouth, anus, or affecting any part of the body skin
• Formation of mouth ulcers and blistering of skin, which may be widespread
• Longstanding diarrhea
• Dementia causing memory loss and other neurological deficits
• Hair loss or alopecia; it may also involve the eyebrows and eyelashes
• Wounds, which take a long time to heal
• Light sensitivity
• In infants, initially irritability and eventually failure to thrive
• Abdominal discomfort; swollen abdomen
• Enlarged lymph nodes

The onset of symptoms may occur within a few weeks (usually 4-6 weeks) in newborn children (with inherited form of Acrodermatitis Enteropathica).

How is Acrodermatitis Enteropathica Diagnosed?

The diagnosis of Acrodermatitis Enteropathica may involve the following tests and exams:

• Complete physical examination and evaluation of medical history, including family history
• Lab tests that may include:
  • Complete blood count (CBC) test
  • Liver function tests
  • Test for bilirubinlevel
  • Zinc level blood and urine test
  • Test for infections such as hepatitis or Epstein-Barr virus infection
  • Bacterial and yeast cultures of skin lesions
• Skin or tissue biopsy: A biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

What are the possible Complications of Acrodermatitis Enteropathica?

The complications of Acrodermatitis Enteropathica may include the following:

• Formation of secondary skin infections (bacterial or fungal)
• Growth retardation in children due to zinc deficiency
• Neurological symptoms
• Severe irritability in babies and infants
• Stress and depression due to severe skin condition
• Liver dysfunction
• Complications that occur from underlying condition causing Acrodermatitis Enteropathica
• Individuals, who are treated long-term with zinc supplementation may develop treatment side effects from high levels of zinc in the body

How is Acrodermatitis Enteropathica Treated?

The treatment of Acrodermatitis Enteropathica may involve the following measures:

• Undertaking treatment of diseases and conditions that causes decreased levels of zinc in the body
• Recommending zinc supplements to raise the level of zinc in the body; improving dietary intake of zinc
• The symptoms, such as skin rashes, diarrhea, and loss of hair, are known to resolve following replacement of zinc in the body

Regular medical screening at periodic intervals with tests and physical examinations are highly recommended.

How can Acrodermatitis Enteropathica be Prevented?

• Currently, there are no specific methods or guidelines to prevent the inherited form of Acrodermatitis Enteropathica, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

In case of acquired form, addressing the underlying condition causing Acrodermatitis Enteropathica may help prevent its onset.

What is the Prognosis of Acrodermatitis Enteropathica? (Outcomes/Resolutions)

• The prognosis of Acrodermatitis Enteropathica is typically good with early and adequate treatment that involves zinc supplementation
• With prompt and appropriate treatment, the symptoms are known to subside and disappear. In the absence of proper treatment, the condition is fatal

Additional and Relevant Useful Information for Acrodermatitis Enteropathica:

Zinc deficiency in the body is mainly caused by a lack of zinc uptake through a poor diet or by Acrodermatitis Enteropathica, a rare genetic disorder caused by the malabsorption of zinc through the intestines.