Acrodermatitis enteropatica

What is acrodermatitis enteropathica?

Acrodermatitis enteropathica is a rare disorder associated with zinc deficiency. It is presented with the classic triad of:

• peri-acral and periorificial dermatitis
• Diarrhea
• Alopecia.

Primary Acrodermatitis enteropathica is due to an inherited defect in the zinc transporter, resulting in decreased intestinal absorption of zinc.

Acquired acrodermatitis enteropathica may be the result of reduced intake, increased demand, malabsorption, or rarely may be associated with certain metabolic disorders.

Enteropathic pseudoacrodermatitis has been described in biotinidase deficiency, organic acid, amino acids, urea cycle, and essential fatty acid disorders [1–5].

Acrodermatitis enteropathica is also known as acrodermatitis enteropathy, primary zinc malabsorption. syndrome, Danbolt-Closs syndrome and Brandt syndrome [6–8].

What is the role of zinc in the body?

Zinc is an essential micronutrient with better bioavailability from human milk than cow's milk or other infant formulas.

• Meat, shellfish, and wheat germ are rich dietary sources.
• Phytates (cereals) and some medications. inhibit its absorptionchelator agents).
• Zinc absorption occurs primarily in the jejunum and duodenum.

Zinc is part of more than 200 metalloenzymes involved in cellular metabolism.

• The bioavailability and transport of zinc are important for homeostasis.
• Zinc has antiinflammatory and antioxidant properties.
• It plays an important role in normal wound healing, growth, brain development, and immune function. [1–5,9–11].

What causes acrodermatitis enteropathica?

Primary acrodermatitis enteropathica

Primary acrodermatitis enteropathica is a autosomal recessive genetic disorder and manifests itself when two defective genes are inherited (one from each parent). Carriers have a normal one gene and a defective gene and usually will not have any symptoms of the disease.

the SLC39A4 gene located in chromosome 8q24.3 codes for the zinc transporter protein, ZIP4. A mutation in SLC39A4 disturbs the absorption, transport and general homeostasis of zinc. Zinc deficiency in primary acrodermatitis enteropathica is secondary to a partial blockage of zinc absorption through the small intestine. mucous membrane.

A big number of enzymes require zinc as a cofactor leading to heterogeneous clinical manifestations.

Acrodermatitis acquired enteropathica

Acquired acrodermatitis enteropathica may be associated with the following:

• Inadequate zinc intake (vegetarian diet or zinc-deficient breast milk, anorexia nervosa, chronic consumption of alcohol or intravenous nutrition without zinc)
• Intestinal malabsorption (inflammatory bowel disease, intestinal bypass surgery [12], cystic fibrosisor pancreatic disease)
• Excessive urinary loss of zinc (nephrotic syndrome)
• Low albumin levels and high catabolic states (trauma, thermal burn, extensive surgery or cirrhosis)

• necrolytic migratory erythema (glucagonoma) [13].

What are the clinical features of acrodermatitis enteropathica?

Primary acrodermatitis enteropathica can manifest in formula-fed infants within a few days or weeks after birth, and shortly after weaning in breastfed infants. Both men and women are equally affected [1–5,9–11].

Symptoms of acquired acrodermatitis enteropathica can occur at any age, depending on the underlying cause, but primarily affect older children, adolescents, and adults.

Premature infants may present early with acrodermatitis enteropathica due to an increased demand for and negative balance of zinc at birth. Acrodermatitis enteropathica in preterm infants may be due to zinc-deficient breast milk or a carrier protein mutation.

Primary and acquired acrodermatitis enteropathica have similar cutaneous and noncutaneous findings.

Skin characteristics

A form of dermatitis is typically the first manifestation of zinc deficiency. Characteristically, it is found in an acral and peri-orificial distribution.

• There is usually a strong demarcation between the affected area and normal skin.
• The peri orifice eruption It is usually in the shape of a horseshoe or U-shape with the involvement of the cheeks to the chin that avoids the lips.
• eczematous or psoriasiform plates progress to include vesicles and bullas, pustules, erosions or hyperkeratotic zones
• A bright red tongue (glossitis), mouth ulcers, and angular cheilitis are often early signs.
• Symmetrical perianal excoriations and rash on the buttocks
• extensor muscle aspects of the extremities (elbows and knees) and acral areas (fingers and toes) may also be involved.
• Secondary infection with Candida albicans or Staphylococcus aureus it can happen.
• Wound healing is impaired.

Diffuse hair the loss affects the scalp, eyebrows and eyelashes. the nail they are smooth with ridges, dystrophy and paronychia.

Non-cutaneous symptoms

Other features of acrodermatitis enteropathica include [1–5,9–11]:

• Blepharo-conjunctivitis and light sensitivity
• Loss of appetite
• Diarrhea, mild or severe.
• Irritability (babies cry and fuss incessantly)
• Depressed mood, apathy, and emotional disturbances in older children and adults.
• Growth failure in untreated children
• Hypogeusia (decreased sense of taste)
• Hypogonadism in male adolescents and young adults.

How is acrodermatitis enteropathica diagnosed?

The following investigations may be useful if zinc deficiency and acrodermatitis enteropathica are suspected.

• Serum/ /plasma zinc levels: normal non-fasting levels are 9.0-17.0 µmol/L
• Serum alkaline phosphatase – this can support the diagnosis if it is low
• Serum albumin – note that zinc is negative acutePhase reagent so that low zinc levels can be observed if albumin is low or in the presence of inflammatory disease. Special collection precautions may be required. Be aware of false positives and false negatives.
• Zinc levels in urine, hair, and breast milk, if available
• A complete blood count anemia and leukopenia are typical

A biopsy of early skin injury is not specific as histology can be similar to eczema or psoriasis Spongiosis with epidermal pallor can be seen initially Confluent parakeratosis, keratinocytes necrolysis, a thin layer of Malpighia and absence of granular layer It can be seen later.

Which is the differential diagnosis of acrodermatitis enteropathica?

Other conditions that should be considered may include [1–5,9–13]:

• Atopic eczema – this usually avoids the napkin area, does not result in hair loss, and usually presents after early childhood

• Psoriasis: this involves the groin push-ups (napkin psoriasis) with typical plaques elsewhere

• Seborrheic dermatitis – this has a typical flexural distribution

• Necrolytic erythema migrans: This is an exfoliative periorificial dermatitis seen in infants with metabolic disorders such as biotinidase deficiency and disorders of the urea cycle, organic acids, and essential fatty acids (often included in routine neonatal metabolic screening)

• Pellagra, due to niacin deficiency, and dermatitis similar to pellagra in Hartnup disease

• Bullous disorders, particularly epidermolysis bullosa (EB) and linear IgA bullous disease

• Langerhans cell histiocytosis – this may present with a hemorrhagic papulopustular rash in the napkin area

• Candida superinfection

• Thermal burn – this should raise suspicion of non-accidental injury

• Dermatitis napkin.

What is the treatment of acrodermatitis enteropathica?

Treatment of primary acrodermatitis enteropathica begins with high-dose supplementation using oral elemental zinc at 3 mg/kg/day (there is 50 mg of elemental zinc in 220 mg of zinc sulfate) [1–5,9–11]. High-dose oral supplementation overcomes the transporter defect.

Treatment of acquired or dietary zinc deficiency begins with 0.5-1 mg/kg/day of elemental zinc while treating malnutrition. Zinc can be given during pregnancy.

• Normal doses of zinc are generally well tolerated, but an overdose can cause toxicity.
• Acute zinc overdose can cause vomiting, diarrhea, abdominal cramps, lethargy, lightheadedness, and gait disturbances.
• Chronic zinc overdose can lead to neutropenia, leukopenia, copper and iron deficiency, anemia, growth retardation and lipid abnormalities.
• The zinc sulfate preparation may cause gastrointestinal irritation and gluconate or acetate preparations may be tried where available.
• Blood zinc levels should be measured every 3 to 6 months with adjustment to the lowest effective dose. Complete blood count, alkaline phosphatase, and copper levels may be helpful for further monitoring.

Secondary bacterial Skin infection and candida require proper therapy.

What is the outcome of acrodermatitis enteropathica?

Diarrhea, irritability, and mood symptoms usually improve within a day of starting zinc treatment. Skin healing is seen within a week and normal hair growth is seen within a month after zinc replacement.

the forecast Acrodermatitis enteropathica is usually good with prompt diagnosis and zinc replacement, but can be life-threatening without treatment.