Acrodermatitis enteropathica explained

Acrodermatitis enteropathica
Synonyms:	Acrodermatitis enteropathica, zinc deficiency type
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.^{[1] [2]}

Other names for acrodermatitis enteropathica include Brandt syndrome and Danbolt–Cross syndrome.^[3]

Signs and symptoms

Individuals with acrodermatitis enteropathica may present with the following:^[4]

• 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.^[5]

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.^{[1] [6] [7] [8]}

Diagnosis

The diagnosis of an individual with acrodermatitis enteropathica includes each of the following:^[1]

• Plasma zinc level (lab)
• Light microscopy (skin biopsy)
• Electron microscopy (histology)

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.^[6]

See also

• Acrodermatitis

Further reading

• Book: Beigi. Pooya Khan Mohammd. Maverakis. Emanual. Acrodermatitis Enteropathica: A Clinician's Guide. 2015. Springer. 9783319178196. 18 February 2017. en.
• Web site: OMIM Entry - # 201100 - ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ. www.omim.org. 18 February 2017. en-us.
• Gupta. Mrinal. Mahajan. Vikram K.. Mehta. Karaninder S.. Chauhan. Pushpinder S.. Zinc Therapy in Dermatology: A Review. Dermatology Research and Practice. 1 January 2014. 2014. 10.1155/2014/709152. 4120804. 1687-6105. 25120566. 709152. free.

Notes and References

1. Acrodermatitis Enteropathica: Background, Pathophysiology, Etiology of Acrodermatitis Enteropathica . Medscape . 28 April 2024 . 4 June 2021 . 9 July 2018 . https://web.archive.org/web/20180709185637/https://emedicine.medscape.com/article/1102575-overview . live .
2. Sehgal. V. N.. Jain. S.. 2000-11-01. Acrodermatitis enteropathica. Clinics in Dermatology. 18. 6. 745–748. 0738-081X. 11173209. 10.1016/s0738-081x(00)00150-4. 44403386. 2019-01-07. 2019-01-07. https://web.archive.org/web/20190107085536/http://dergipark.gov.tr/tbtkmedical/issue/12359/148153. dead.
3. Stedman, Thomas Lathrop. 2005. Stedman's Medical Eponyms. Baltimore: Lippincott Williams & Wilkins, p. 170.
4. Web site: Acrodermatitis enteropathica Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. en. 2017-02-18. 2017-07-04. https://web.archive.org/web/20170704164717/https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica. live.
5. Web site: Acrodermatitis Enteropathica, DermNet New Zealand. 2017-10-21. 2021-02-25. https://web.archive.org/web/20210225094307/https://dermnetnz.org/topics/acrodermatitis-enteropathica/. live.
6. Web site: RESERVED. INSERM US14 -- ALL RIGHTS. Orphanet: Acrodermatitis enteropathica. www.orpha.net. 18 February 2017. en. 17 May 2019. https://web.archive.org/web/20190517124948/https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=37. live.
7. Web site: SLC39A4 gene. Reference. Genetics Home. Genetics Home Reference. en. 2017-02-18. 2018-10-27. https://web.archive.org/web/20181027101529/https://ghr.nlm.nih.gov/gene/SLC39A4. dead.
8. Kasana. Shakhenabat. Din. Jamila. Maret. Wolfgang. 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. 1 January 2015. 29. 47–62. 10.1016/j.jtemb.2014.10.003. 25468189. 2015JTEMB..29...47K .