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At a glance

Inherited vesiculobullous disorder characterized by intermittent simultaneous occurrence of diarrhea and bullous periorificial and acral dermatitis (dry lesions surrounding the mouth, ears, nose, and eyes) and affecting the fingers, feet, and knees. The skin lesions are often infected by Staphylococcus aureus and/or Candida albicans. Failure to thrive in premature babies has been reported. In children, there are periorificial lesions of the face and the anogenital region. Alopecia and absence of eyebrows, eyelashes, and the thymus gland are commonly seen. Affected individuals with absence of thymus will present important anesthesia considerations, particularly myasthenia gravis like symptoms.

Synonyms

Acrodermatitis Enteropathica; Zinc-Deficiency Syndrome; Periorificial Dermatitis; Brandt Syndrome; Danbolt Syndrome, Danbolt’s Syndrome, Hereditary Acrodermatitis Enteropathica; Primary Zinc Malabsorption.

History

Named after Niels C. G. Danbolt and Karl P. Closs, two Norwegian physicians who described the disease in 1942 although the first description of this medical condition was given by Thore E. Brandt, a Swedish dermatologist, in 1936.

Incidence

The exact incidence for the congenital form remains unknown; however, it is estimated approximately 2:1,000,000 live births worldwide. There is no racial or sexual predilection reported. The acquired form, as a consequence of a Gastrointestinal Malabsorption Syndrome, has become less frequent in recent years as zinc supplements have been added to the parenteral nutrition regimen. However, pediatric acquired forms are more common in some regions such as Southeast Asia and sub-Saharan Africa where Gastrointestinal Malabsorption Syndrome is more frequent.

Genetic inheritance

It is an autosomal recessive metabolic disorder. The presence of sporadic mutation in the SLC39A4 gene located on chromosome 8q24.3 has been incriminated for the disorder. The SLC39A4 gene is known to encode a transmembrane protein necessary in the absorption of zinc.

Pathophysiology

Results in decreased synthesis of picolinic acid that causes an impaired ability to utilize zinc from common food. The metabolic defect appears to be related to a cellular defect in zinc metabolism rather than in zinc absorption. However, oral or intravenous administration of zinc rapidly improves the condition. Fibroblasts of these patients contain 60% less zinc than in normal subjects. The immune system also is affected by zinc deficiency, which not only may result in decreased cellular and humoral immune response with increased susceptibility to infections but also may be involved in the association with connective tissue disorders. Zinc concentrations are decreased in the mucosa of the small intestine.

Diagnosis

Vesiculobullous and/or pustular disorder caused by a disturbance of intraepidermal or dermal-epidermal adherence with subsequent accumulation of serous fluid within the cavities formed by tissue separation. The disorder develops during the first year of life as periorificial and acral vesiculobullous eruptions, which are followed by alopecia, ungual dystrophy, severe diarrhea, failure to thrive, cachexia, and psychological symptoms such as ...

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