ACRODERMATITIS ENTEROPATHICA

By Gary M. White, MD

Acrodermatitis Enteropathica A 5-month-old baby with a 2-month history of a rash (Photographs very kindly provided courtesy of Laureano, A., S. Bras, et al. (2014). "Transient symptomatic zinc deficiency in a preterm exclusively breast-fed infant." Dermatol Online J 20(2) ).


Acrodermatitis enteropathica (AE) is a vesicobullous or erosive disorder of neonates caused by zinc deficiency. The classic AE is inherited autosomal recessive, causing poor intestinal absorption of zinc and with resulting low plasma zinc level. The defective gene is SLC39A4 on chromosome 8q24.3. It encodes a zinc transporter expressed in the enterocytes—Zip4—that contribute to zinc homeostasis. Alternatively, if the infant is breast feeding, mom may have an abnormal zinc transporter (zinc transporter-2) resulting in low to absent zinc in her breast milk. Finally, in a weaned child, the diet may be zinc deficient.

In summary, the three causes of acrodermatitis enteropathica, all mediated through low serum zinc:

Adults receiving total parenteral nutrition, those with malabsorption (e.g., associated with inflammatory bowel disease) or those with an extremely poor diet can develop zinc-deficiency also. The differential diagnosis in newborns also includes inborn errors of metabolism. A similar rash occurs in patients with cystic fibrosis who are low in zinc and essential fatty acids (see acrodermatitis dysmetabolica). A patient with Down syndrome and poor nutrition on methotrexate developed zinc deficiency and an acrodermatitis enteropathic-like rash [BJD 1996;135;659]. Finally, a glucagonoma can create a similar rash.

Clinical

A pustular, erosive, and bullous eruption with predilection for the groin, perioral, perianal, and periungual areas is typical. Onset in the first year of life is characteristic. Diarrhea and hair loss may occur.

Workup and Differential Diagnosis

The patient's and mother's serum as well as the mother's breast milk zinc levels should be measured. The differential diagnosis includes cystic fibrosis (see acrodermatitis_dysmetabolica) and inborn errors of metabolism e.g., maple syrup urine disease), methylmalonicacademia, propionic acidemia, biothinidase deficiency (biotin-responsive multiple carboxylase deficiency), citrullinemia, and essential fatty acid deficiency. Infants in Japan may develop acquired biotin deficiency as baby formula there is characteristically biotin deficient. For older children and adults, consider necrolytic migratory erythema and anorexia nervosa.

Treatment

Zinc sulfate 2-5 mg/kg/day divided BID or TID should be prescribed. It has been suggested that the copper level be followed as high zinc levels may decrease copper. It may be that the optimal zinc dosing level may vary with individuals, copper level, growth periods, and immune function.

Additional Pictures

A 5-month-old baby girl with a 2-month history of a rash (Photographs very kindly provided courtesy of Laureano, A., S. Bras, et al. (2014). "Transient symptomatic zinc deficiency in a preterm exclusively breast-fed infant." Dermatol Online J 20(2).

Acrodermatitis Enteropathica Acrodermatitis Enteropathica

References

Symptomatic zinc deficiency in a full-term breast-fed infant Dermatology Online Journal 16 (6): 3

A 14-month-old boy presented with a rash that started at the age of 2 months of age, about 1 month after he was weaned from breastfeeding. At the age of 10 months, the boy had bacterial skin superinfections with Staphylococcus aureus, including suprapubic and right thigh abscesses. He had one healthy sister and one who died at the age of 5 months with similarly superinfected skin lesions. Serum zinc levels were low and he also had IgA and IgG deficiency. [Medicine (Baltimore). 2016 May; 95(20): e3553].

RegionalDerm

Homepage | FAQs | Use of Images | Contact Dr. White


It is not the intention of RegionalDerm.com to provide specific medical advice, diagnosis or treatment. RegionalDerm.com only intends to provide users with information regarding various medical conditions for educational purposes and will not provide specific medical advice. Information on RegionalDerm.com is not intended as a substitute for seeking medical treatment and you should always seek the advice of a qualified healthcare provider for diagnosis and for answers to your individual questions. Information contained on RegionalDerm.com should never cause you to disregard professional medical advice or delay seeking treatment. If you live in the United States and believe you are having a medical emergency call 911 immediately.