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Acrodermatitis enteropathica

Field	Value
name	Acrodermatitis enteropathica
synonyms	Acrodermatitis enteropathica, zinc deficiency type
image	Image:autorecessive.svg
caption	Acrodermatitis enteropathica inheritance
symptoms	Dry skin, Emotional lability, Blistering of skin
causes	Mutation of the SLC39A4 gene
diagnosis	Skin biopsy, Plasma zinc level
treatment	Dietary zinc supplementation

Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane. It is characterized by inflammation of the skin (dermatitis) around bodily openings (periorificial) and the tips of fingers and toes (acral), hair loss (alopecia), and diarrhea. It can also be related to deficiency of zinc due to other, i.e. congenital causes.

Other names for acrodermatitis enteropathica include Brandt syndrome and Danbolt–Cross syndrome.

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.

Genetics

Acrodermatitis enteropathica, in terms of genetics, indicates that a mutation of the SLC39A4 gene on chromosome 8 q24.3 is responsible for the disorder. The SLC39A4 gene encodes 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. Zinc is very important as it is involved in the function of approximately 100 enzymes in the human body.

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)

File:Optical microscope nikon alphaphot.jpg|Microscope File:Electron Microscope.jpg|Electron Microscope

Treatment

Acrodermatitis enteropathica without treatment is fatal, and affected individuals may die within a few years. There is no cure for the condition. Treatment includes lifelong dietary zinc supplementation.

References

(4 June 2021). "Acrodermatitis Enteropathica: Background, Pathophysiology, Etiology of Acrodermatitis Enteropathica".
Sehgal, Virendra N. (November 2000). "Acrodermatitis enteropathica". Clinics in Dermatology.
Stedman, Thomas Lathrop. 2005. ''Stedman's Medical Eponyms.'' Baltimore: Lippincott Williams & Wilkins, p. 170.
"Acrodermatitis enteropathica {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
"Acrodermatitis Enteropathica, DermNet New Zealand".
RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Acrodermatitis enteropathica".
Reference, Genetics Home. "SLC39A4 gene".
Kasana, Shakhenabat. (January 2015). "Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: Acrodermatitis enteropathica and transient neonatal zinc deficiency as examples". Journal of Trace Elements in Medicine and Biology.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

autosomal-recessive-disorders mineral-deficiencies genodermatoses

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