What is Acrodermatitis Enteropathica & How is it Treated?|Causes, Symptoms, Case Study of Acrodermatitis Enteropathica

What is Acrodermatitis Enteropathica?

Acrodermatitis Enteropathica is a rare autosomal recessive disorder which is inherited or acquired genetically. The main reason for the disorder is the mutation of the gene SLC39A4 in chromosome 8q24.3 which is responsible for the encoding of the membrane protein which binds the zinc enzyme. This zinc enzyme is the co-enzyme in metal enzymes; it is the structural component of gene regulatory proteins and regulates gene expression. On the whole, it controls 100 enzymes in the human body. The zinc also contributes to the functioning of the cells and it also plays a crucial role in the metabolism of protein, carbohydrate, and vitamin A. Acrodermatitis Enteropathica was first discovered and explained by Brandt in 1936 but was described as a disease in 1942. The treatment by zinc supplementation was later invented by Moynahan and Barnes in 1973. In some cases, the patients are found with Acrodermatitis Enteropathica even with normal zinc level in every suspected area.

The Pattern of Inheritance of Acrodermatitis Enteropathica

When both the parents are carriers of Acrodermatitis Enteropathica there is a 25% possibility that their children will be affected, a 50% possibility that their children will also be a carrier and a 25% possibility that their children will be born normal who are neither affected nor carriers. Whereas, when one of the parents is affected, there is a 50% possibility that their offspring will be a carrier and a 50% possibility that their children will be born normal [1]. There will be no chance for the children to be affected in the later situation.

Causes of Acrodermatitis Enteropathica

The causes are many for Acrodermatitis Enteropathica, such as premature birth, less birth weight, deficiency of zinc in maternal milk, and exclusive parenteral nutrition.

Some of the related diseases which can cause Acrodermatitis Enteropathica come under mal-absorption syndromes such as Crohn’s disease and Celiac disease (hereditary, intestinal mal-absorption disorder caused due to intolerance to dietary gluten), alcoholism, low calcium, phytate diet, and kwashiorkor (caused due to inadequate protein). Among all these causes zinc deficiency in maternal milk is the main cause which occurs due to mutation of the gene SLC30A2. Even if maternal milk has a good amount of zinc content if any one of the parents is affected then also there are chances of the child getting affected. After weaning it is mostly caused because of the cow milk which contains low zinc and if it is caused before weaning then it is because of low zinc secretion in the mammary gland of the mother. Along with Acrodermatitis Enteropathica even cystic fibrosis, liver disease, and dietary zinc depletion is also caused.

Symptoms of Acrodermatitis Enteropathica

The symptom of Acrodermatitis Enteropathica varies with the age of the individual but in every age, it affects the skin first. The infants show symptoms like diarrhea, mood change, anorexia, neurological disturbance. School children or toddlers show symptoms like growth retardation, alopecia (the hair in the scalp, eyebrows, and eyelash starts falling off), weight loss and recurrent infection. As the individual attains puberty spontaneous remission occurs.

Following are the common symptoms of all ages:

  • Impaired immune function,
  • Multiple skin or gastrointestinal lesions,
  • Blistering of the skin and later dries to become psoriasis,
  • Emotional lability
  • Glossitis ( inflammation of the tongue),
  • Pustule (blister or swelling on the skin with puss).

Sometimes the skin around the nail also gets inflamed and looks abnormal due to malnutrition. Secondary infection is caused by other organisms such as bacteria

  • (Staphylococcus aureus) and fungi (Candida albicans) along with ADE.
  • Short term memory loss
  • Problems may be created in spermatogenesis
  • Bone mineralization may be affected
  • Lymphocyte depletion
  • Decreased immunoglobulin

Diagnosis of Acrodermatitis Enteropathica

The Acrodermatitis Enteropathica disorder is diagnosed by checking the zinc level in serum, urine or hair. There are the three following methods to find the amount of zinc:

  • Plasma zinc level – which is a lab test
  • Light microscopy – skin biopsy
  • Electron microscopy – whole,
  • Molecular genetic testing – identify a mutation in the gene SLC39A4

Treatment for Acrodermatitis Enteropathica

Acrodermatitis Enteropathica is fatal and a lifelong procedure of treatment may be required at times. Acrodermatitis Enteropathica may also be treated within 2 to 4 weeks of supplementation treatment but it cannot be cured and even if its cured the chance of it getting relapsed is much higher. The affected individual is given with 3 to 4 mg of zinc gluconate or sulfate. No other immediate cure has yet been found in the medical industries.

It is also said that the copper level should also be monitored. It is advised to increase the intensity of the treatment during adolescence and pregnancy as there are high chances of the occurrence of relapses is higher. The treatment gets complicated when a secondary infection causes a high rate of mortality and morbidity. Sometimes this treatment causes gastric irritation, hemorrhage, and hypocupremia which are considered as side effects.

It is also recommended adding the following food items in the diet of the affected individuals:

  • Oyster – 25mg/100g
  • Meat – 5.2mg/100g
  • Nuts – 3mg/100g
  • Shell fish – 2.7mg/100g
  • Poultry – 1.5mg/100g
  • Eggs – 1.3mg/100g
  • Milk and milk products – 1.2mg/100g
  • Cereals – 1mg/100g
  • Bread – 1mg/100g
  • Fish – 0.8mg/100g
  • Green vegetables – 0.4g/100g
  • Potatoes – 0.3g/100mg
  • Fresh fruits – 0.09g/100mg
  • Census – Related to Acrodermatitis Enteropathica

In the whole world, the ratio of people affected by Acrodermatitis Enteropathica is 1:50000. That affected population is mostly found in Southeast Asia and sub-Saharan Africa where the gastrointestinal mal-absorption is at a high rate when compared to other parts of the world.

Case Study of Acrodermatitis Enteropathica

There was a woman of 23 years old who suffered from lesions on the skin and recurrent diarrhea for duration of six months. First, the lesions were seen only on the limbs but later it started to spread over thighs and genital areas along with a great weight loss of 10 kilograms within 2 months. She went through molecular genetic therapy but could not find any other member of the family to be affected with Acrodermatitis Enteropathica whereas the test for zinc level in her serum, hair, and urine showed that she was suffering from Acrodermatitis Enteropathica. This woman when she consulted her private practitioner before this test was suspected to have some other disease which could not be treated after prolonged treatment. She then consulted a well-preferred dermatologist who found that she was suffering from Acrodermatitis Enteropathica.

Numerous well defined moist, erythematous lesions on the bilateral dorsal of her feet was found in the later physical examination. Her skin around the nails was inflamed due to malnutrition which was caused due to the poor intake of food for the last 1 year. Other than these symptoms there was no other secondary infection or disease to be found in her body in the further examination. She was then admitted and treated at the hospital with zinc supplementation 3 times a day. Then the lesions started drying and within few weeks she was healed but was discharged with a prescription of zinc supplementation for 3 to 4 weeks after which the lesions were totally cleared but during her pregnancy she relapsed as she did not take up intense treatment for the same. Later the mammary glands produced fewer zinc enzymes and thus her child was then affected with Acrodermatitis Enteropathica [2]. The doctors found Acrodermatitis Enteropathica in her baby in its infancy stage and treated it, hence it was not fatal. The above case of the woman is an isolated Acrodermatitis Enteropathica where an individual is affected by the disorder with no history of any family member being affected.

There have also been cases where the symptoms in an infant has been considered as diaper rashes and has been left untreated which was Acrodermatitis Enteropathica. Acrodermatitis Enteropathica a fatal one in the child’s body.

Conclusion

Acrodermatitis Enteropathica, is thus a very rare case which is not reported or considered much by the world population. It can also be seen that the awareness about Acrodermatitis Enteropathica is at a very minimal rate. It is hard to prevent it but early treatment can cure the disease in the long run of zinc supplementation treatment. In very rare case even adults are affected with it after their childhood. As Acrodermatitis Enteropathica is an inherited disorder it is recommended go for a genetic counseling to identify another member of the family before the physical symptoms are visible. With lifelong zinc supplementation, the prognosis is good but Acrodermatitis Enteropathica becomes fatal if it is left untreated in the infant stage.

References:  

  1. Bronson, D., Barsky, R., & Barsky, S. Acrodermatitis enteropathica. Journal Of The American Academy Of Dermatology, (1983). 140-144. doi: 10.1016/s0190-9622(83)70120-9
  2. Nistor, N., Ciontu, L., Frasinariu, O., Lupu, V., Ignat, A., & Streanga, V. Acrodermatitis Enteropathica. Medicine, (2016). e3553. doi: 10.1097/md.0000000000003553

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