Acrodermatitis enteropathica: Difference between revisions

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There are [[erythematous]] patches and plaques of dry, scaly skin. The lesions may appear [[eczema]]tous, or may evolve further into crusted [[vesicle]]s , [[Blister|bulla]]s or [[pustule]]s. The lesions are frequent around natural orifices like the mouth (peri-oral) and anus (peri-anal), and also in hands, feet and [[scalp]].
There are [[erythematous]] patches and plaques of dry, scaly skin. The lesions may appear [[eczema]]tous, or may evolve further into crusted [[vesicle]]s , [[Blister|bulla]]s or [[pustule]]s. The lesions are frequent around natural orifices like the mouth (peri-oral) and anus (peri-anal), and also in hands, feet and [[scalp]].
There may be [[suppurative]] [[inflammation]] of the nail fold surrounding the [[nail plate]] - known as [[paronychia]]. [[Alopecia]] - loss of hair from scalp, eyebrows and eyelashes may occur. The skin lesions may be secondarily infected by [[bacteria]] such as [[Staphylococcus aureus]] or [[fungus|fungi]] like [[Candida albicans]]. These skin lesions are accompanied by diarrhea.
There may be [[suppurative]] [[inflammation]] of the nail fold surrounding the [[nail plate]] - known as [[paronychia]]. [[Alopecia]] - loss of hair from scalp, eyebrows and eyelashes may occur. The skin lesions may be secondarily infected by [[bacteria]] such as [[Staphylococcus aureus]] or [[fungus|fungi]] like [[Candida albicans]]. These skin lesions are accompanied by diarrhea.
==Physical examination==
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Revision as of 13:19, 17 July 2014


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Brandt syndrome, Danbolt-Cross syndrome, Congenital zinc deficiency

Overview

Acrodermatitis enteropathica is an autosomal recessive disorder characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea. Similar features may be present in acquired zinc deficiency. This disease also is related to deficiency of zinc due to congenital causes.

Pathogenesis

The genetic mutation of SLC39A4 gene on Chromosome 8q locus 24.3 appears to be the cause. The SLC39A4 gene appears to encode a transmembrane protein that serves as a zinc uptake protein. The features of the disease usually start manifesting as an infant is weaned from breast milk. This has led some scientists to suspect that human milk contains a beneficial substance that helps uptake of zinc and prevents the disease from being manifested while an infant is on breast milk.

Diagnosis

History and Symptoms

Features of acrodermatitis enteropathica start appearing in the first few months of life, as the infant discontinues breast milk.

Physical Examination

Skin

There are erythematous patches and plaques of dry, scaly skin. The lesions may appear eczematous, or may evolve further into crusted vesicles , bullas or pustules. The lesions are frequent around natural orifices like the mouth (peri-oral) and anus (peri-anal), and also in hands, feet and scalp. There may be suppurative inflammation of the nail fold surrounding the nail plate - known as paronychia. Alopecia - loss of hair from scalp, eyebrows and eyelashes may occur. The skin lesions may be secondarily infected by bacteria such as Staphylococcus aureus or fungi like Candida albicans. These skin lesions are accompanied by diarrhea.

Treatment

Without treatment, the disease is fatal and affected individuals may die within a few years. However, there is no absolute treatment of the condition. Lifelong dietary zinc supplementation in the range of greater than 1-2 mg/kg of bodyweight per day is usually needed.

Organizations and resources

The following organizations provide information and patient support resources:

References

  1. 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 1.15 1.16 1.17 1.18 1.19 1.20 1.21 "Dermatology Atlas".

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