Acrodermatitis enteropathica

Alternate names

Acrodermatitis enteropathica zinc deficiency type; AEZ; Brandt syndrome; Danbolt-Cross syndrome; AE

Definition

Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur.

Cause

• The inherited form is caused by mutations in the SLC39A4 gene.
• The acquired form can result from diets lacking the appropriate amount of zinc.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive pattern.

Signs and symptoms

Individuals with acrodermatitis enteropathica may present with the following:

• Blistering of skin
• Dry skin
• Emotional lability
• Glossitis
• Pustule
• Alopecia (loss of hair from the scalp, eyebrows, and eyelashes) may occur. Skin lesions may be secondarily infected by bacteria such as Staphylococcus aureus or fungi such as Candida albicans. These skin lesions are accompanied by diarrhea.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormal blistering of the skin(Blistering, generalized)
• Abnormal eyebrow morphology(Abnormality of the eyebrow)
• Alopecia(Hair loos)
• Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
• Chronic diarrhea
• Dry skin
• Erythema
• Malabsorption(Intestinal malabsorption)
• Pustule(Pimple)
• Short stature(Decreased body height)

30%-79% of people have these symptoms

• Blepharitis(Inflammation of eyelids)
• Cheilitis(Inflammation of the lips)
• Conjunctivitis(Pink eye)
• Emotional lability(Emotional instability)
• Failure to thrive(Faltering weight)
• Furrowed tongue(Grooved tongue)
• Glossitis(Inflammation of the tongue)
• Paronychia
• Photophobia(Extreme sensitivity of the eyes to light)
• Ridged fingernail(Longitudinally grooved fingernails)
• Ridged nail(Grooved nails)
• Skin ulcer(Open skin sore)

5%-29% of people have these symptoms

• Anorexia
• Corneal erosion(Damage to outer layer of the cornea of the eye)
• Poor appetite(Decreased appetite)
• Visual impairment(Impaired vision)
• Weight loss

Diagnosis

The diagnosis of an individual with acrodermatitis enteropathica includes each of the following:

• Plasma zinc level (lab)
• Light microscopy(skin biopsy)
• Electron microscopy (histology)

Treatment

• Acrodermatitis enteropathica without treatment is fatal, and affected individuals may die within a few years.
• There is no cure for the condition.
• Supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica.

NIH genetic and rare disease info

• NIH info on Acrodermatitis enteropathica

Acrodermatitis enteropathica is a rare disease.

Acrodermatitis enteropathica Resources
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