follow @PCDSUKCreated: 9th May 2016 | Last Updated: 21st June 2016
Introduction
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Acrodermatitis enteropathica is a rare genetic condition where there is malabsorption of zinc through the intestinal cells. It is characterised by well-demarcated erythema and crusting around the mouth and/or anus, alopecia, and diarrhoea. This chapter is set out as follows: |
Aetiology
- Acrodermatitis enteropathica is very rare affecting approximately 1:500,000 individuals
- It is associated with mutations in the gene SLC39A4, which codes the zinc intestinal transporter protein ZIP4
- The inheritance is autosomal recessive (ie one defective gene must be inherited from each parent)
History
- Males and females are equally affected
- Symptoms usually occur in bottle-fed infants within a few days or weeks after birth and breast-fed infants soon after weaning
- Zinc deficiency may rarely arise in adults as a consequence of dietary deficiency, intestinal malabsorption, after traumatic events such as burns or surgery, the Nephritic syndrome, and the Glucagonoma syndrome
Clinical findings
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Distribution
- Predominantly around body openings such as the mouth, anus, and eyes
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The skin on the elbows, knees, hands, and feet may also be involved
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Morphology
- Well-demarcated erythema
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Erythema progresses to vesicles, bullae, pustules, desquamation and crusting
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Other cutaneous features
- Alopecia
- Secondary infection is common
- Impaired wound healing
- Paronychia
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A red glossy tongue and mouth ulcers
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Non-cutaneous features
- Apathy and irritability
- Diarrhoea and failure to thrive
- Frequently blepharitis, conjunctivitis and photophobia
Images
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Figure: 1 Acrodermatitis enteropathica Original source Indian Journal of Dermatology, Venereology, and Leprology |
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Figure: 2 Acrodermatitis enteropathica |
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Figure: 3 Same patient as above |
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Figure: 4 As above |
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Figure: 5 As above |
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Figure: 6 Acrodermatitis enteropathica |
Investigations
- Serum zinc concentration is usually low but can be normal
Management
- Patients respond to oral zinc sulphate within a few days. The normal dose is 150–400 mg/day in childhood; a lower dose may suffice after puberty but 400–500 mg/day is needed during pregnancy. Treatment is life long
- If zinc sulphate causes gastric problems other zinc preparations have been recommended but they are not widely available