Pediatric Acrodermatitis Enteropathica - Causes, Symptoms, Diagnosis, and Management

What Is Pediatric Acrodermatitis Enteropathica?

Acrodermatitis enteropathica is a disorder related to zinc metabolism that occurs in multiple forms in humans. It is a rare autosomal recessive disorder that often results in the malabsorption of nutrients in the body. It is a disorder that causes periorificial and acral dermatitis in acute and chronic phases. Moreover, many signs, such as zinc depletion and abnormality related to plasma zinc levels, seen associated with this disorder. In fewer cases, a classic triad of symptoms seen, such as periorificial and acral dermatitis, diarrhea, and alopecia. Also, some of the symptoms related to neurological and behavioral abnormality can make the diagnosis more obscure. There are about one in 500,000 births affected by this disorder in males and females equally. Even healthy breastfed infants are possibly affected by this disorder.

What Is Zinc and Why Is It Essential in the Body?

• Zinc is an important micronutrient with amazing bioavailability. Its bioavailability and transport are essential for homeostasis (the self-regulating process of the body).

• It can be derived from human milk, cow's milk, or even baby formula. Meat, shellfish, and wheat germ are rich sources of zinc.

• Phytates and some drugs can inhibit the absorption of zinc in the body.

• Absorption of the zinc mainly occurs in the jejunum and duodenum of the body.

• Zinc is part of almost 200 metalloenzymes that play an essential part in cellular metabolism.

• Zinc has anti-inflammatory and antioxidant properties.

• It plays a very important role in the development of the brain, the development of an immune system, and the healing of wounds.

What Are the Forms of Pediatric Acrodermatitis Enteropathica?

There are multiple forms of acrodermatitis enteropathica:

• Congenital / Primary Acrodermatitis Enteropathica: It is a very rare form of acrodermatitis enteropathica, that is characterized by abnormalities related to the intestine and its ability to absorb zinc.

  • Causes: Primary acrodermatitis enteropathica is an autosomal recessive genetic mutation. This means that both parents pass at least one of their mutated genes to their children. Usually, carriers carry at least one of the faulty and one normal gene and live without any symptoms throughout their life.

  • Symptoms: A large number of enzymes need zinc as a cofactor in manifestation. Due to the lack of zinc absorption, there are a few signs and symptoms seen, such as:

    • Inflammation of skin with pustular dermatitis (skin pimple) around the mouth or anus or both.

    • Diarrhea.

    • Nail dystrophy (abnormal nails).

• Acute Acrodermatitis Enteropathica: Owing to atrophy of the brain cortex, symptoms such as irritability and emotional disturbance are associated with this disorder.

• Acquired Acrodermatitis Enteropathica:

  • Cause: This form occurs due to the demand and supply disturbance of zinc in the body. There are some symptoms as other forms seen associated with this disorder.

    • One transient form results, due to a lack of zinc secretion in the breast milk of a mother. Additionally, there are other factors in this form of acrodermatitis enteropathica, such as inadequate intake, a vegetarian diet, anorexia nervosa, and alcohol addiction.

    • On the other hand, the other cause is a surgical bypass of some part of the intestine in the body or an imbalance in the intravenous nutritional supplement that lacks zinc. Moreover, pancreatic disease, cystic fibrosis, nephrotic syndrome, trauma, thermal burn, and cirrhosis also proved responsible for this type of acrodermatitis enteropathica.

What Are the Signs and Symptoms of Pediatric Acrodermatitis Enteropathica?

Acrodermatitis enteropathica represents many signs and symptoms, such as:

• Steatorrhea: It is a type of chronic diarrhea in a severe or mild form.

• Skin: The skin around the mouth, anus, eyes, elbows, knees, hands, and feet becomes inflamed.

• Vesicobullous: Skin lesions such as blisters are seen.

• Psoriasis: The blisters are dried out and become psoriasis-like lesions.

• Nails: The skin around the nails and the nail bed are inflamed and abnormal.

• Hair loss: It is visible on the scalp, eyelids, and eyebrows.

• Conjunctivitis: Inflammation of the membrane that lines the eyelid.

• The periorificial rash: It is typically a horseshoe-shaped rash seen on the cheek and chin, except on lips.

• There is a sharp demarcation between the affected and normal areas seen.

• Eczematous or psoriasiform plaques include vesicles, bullae, pustules, erosion, or hyperkeratotic areas.

• Redness on the tongue with mouth ulcers and angular cheilitis is an early sign associated with this disorder.

• Secondary infection with Candida albicans or Staphylococcus aureus may be seen.

• Delayed wound healing.

• Loss of appetite.

• Depressed mood and emotional disturbance.

• Decreased sense of taste.

• Hypogonadism in male adults.

How to Diagnose Pediatric Pediatric Acrodermatitis Enteropathica?

The following are the diagnostic measures that can be taken with acrodermatitis enteropathica:

• Physical examination: It can evaluate the disorder according to typical signs and symptoms.

• Genetic testing: During pregnancy, this test can show if the disorder is inherited or not.

• Serum or plasma zinc level.

• Serum albumin test.

• Urine analysis.

• Milk zinc level.

• A complete blood count.

• Biopsy.

How to Manage Pediatric Acrodermatitis Enteropathica?

Acrodermatitis enteropathica is a disorder caused by the malabsorption of zinc. There are the following therapeutic options available for this abnormality:

• Zinc Supplements: In the cases of acrodermatitis enteropathica, zinc sulfate supplements are given according to age and doctor’s recommendation. Thai supplements should be given as soon as the diagnosis and may have to be continued throughout life.

  • Treatment for primary acrodermatitis enteropathica starts with high-dose supplementation using oral elemental zinc at 3 mg/kg/day (milligram per kilogram per day).

  • Treatment for acquired or dietary acrodermatitis enteropathica begins with 0.5 to 1 mg/kg/day. Zinc supplements are safe for pregnant women too.

• The drug Diodoquin (Iodoquinol) is very effective on the symptoms associated with this disorder.

• If the disorder is caused by intravenous feeding, zinc supplements are added to the supply to clear up the symptoms of acrodermatitis enteropathica.

• Genetic counseling is recommended for parents with congenital forms of acrodermatitis enteropathica.

Conclusion

Acrodermatitis enteropathica is a rare but fatal disorder with multiple severe and painful symptoms. Parents or doctors need to look for any signs or symptoms in the newborn. However, if the disorder is diagnosed in an early stage or on time, the improvement in the symptoms is shortly seen. It takes almost a week for skin lesions to heal and a month to grow back the hair after zinc replacement therapy. With the prompt diagnosis, there is a good prognosis for this disorder.