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Acrodermatitis Enteropathica

NORD is very grateful to John McGrath, MD, St John's Institute of Dermatology, Guy's Hospital, London, for assistance in the preparation of this report.

Synonyms of Acrodermatitis Enteropathica

  • AE
  • Brandt syndrome
  • Danbolt-Cross syndrome
  • zinc deficiency, congenital

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of two forms: an inborn (congenital) form and an acquired form. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that lead to the inability to absorb zinc from the intestine. The lack of zinc presents, characteristically, as: (1) skin inflammation with pimples (pustular dermatitis) occurring around the mouth and/or anus, (2) diarrhea, and (3) abnormal nails (nail dystrophy). In the acute phase, irritability and emotional disturbances are evident due to wasting (atrophy) of the brain cortex. It is important to recognize and treat this disorder.

The acquired form of this disorder generates similar symptoms. Acquired AE sometimes results from special intravenous nutritional programs that are prepared without the appropriate amount of zinc.

Supplemental zinc usually eliminates the symptoms.

Symptoms

Acrodermatitis enteropathica is characterized by chronic diarrhea which may be mild or severe, and the presence of fatty substances in the feces (steatorrhea). In the congenital form symptoms start gradually, frequently at the time of weaning of an infant. The skin around body openings such as the mouth, anus, and eyes, and the skin on elbows, knees, hands, and feet become inflamed. Skin lesions are usually blistered (vesicobullous) and after drying out become psoriasis-like. The skin around the nails may also be inflamed and the nail may be abnormal due to malnourished tissue. Hair loss on the scalp, eyelids, and eyebrows may be total (alopecia). Inflammation of the membrane that lines the eyelid (conjunctivitis), usually also occurs.

The blood zinc level in people with the congenital form of this disorder is abnormally low. A zinc-binding factor produced by the pancreas and present in human milk may be lacking. Breast-fed infants of women with acrodermatitis enteropathica may also develop lowered blood levels of zinc with other symptoms of this disorder, because the milk is deficient in the proper amount of the zinc- binding factor.

In the acute phase of AE, brain cortex atrophy may cause irritability and mental disturbances. With treatment, patients with acrodermatitis enteropathica can lead normal lives.

Frequently, long remissions may occur, usually starting during puberty. However, in rare cases, women may have a recurrence of the disorder during pregnancy.

Causes

The congenital form of acrodermatitis enteropathica is transmitted as an autosomal recessive genetic disorder. It appears to be the result of mutations in the SLC39A4 gene.

Genetic diseases are determined by a combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Some scientists theorize that another form of acrodermatitis enteropathica may be an autoimmune disorder, caused when the body's natural defenses (antibodies) against invading organisms, for unknown reasons, suddenly begin to attack healthy tissue. The issue has not been resolved.

Affected Populations

The congenital form of arodermatitis enteropathica is a rare disorder beginning during infancy. The incidence is about 1 in 500,000 births and the condition affects males and females in equal numbers. Healthy breast-fed infants of female patients with the disorder can also become affected. The acquired form of AE is rare because in recent years zinc supplements have been added to the parenteral nutrition regimen, although acquired forms are more common in some regions such as Southeast Asia and sub-Saharan Africa where gastro-intestinal malabsorption syndrome are more frequent.

Related Disorders

Symptoms of the following disorder can be similar to those of acrodermatitis enteropathica. Comparisons may be useful for a differential diagnosis:

Celiac sprue (gluten enteropathy) is a chronic, hereditary, intestinal malabsorption disorder caused by intolerance to dietary gluten. The illness is characterized by a flat mucous lining of the jejunum (part of the small intestine). Symptoms include weight loss, chronic diarrhea, abdominal cramping and bloating, intestinal gas, and muscle wasting. Clinical and/or histologic improvement of symptoms, follow withdrawal of dietary gluten. (For more information on this disorder, choose "Celiac Sprue" as your search term in the Rare Disease Database.)

Standard Therapies

Acrodermatitis enteropathica is treated with zinc supplements in the form of zinc sulfate. These supplements should be given as soon as diagnosis of the disorder is made and they have to be continued for life. The drug Diodoquin (iodoquinol) is another treatment that usually clears up symptoms within a week. If the disorder is caused by intravenous feeding, adding zinc supplements to the nutritional regimen can prevent and/or clear up manifestations of AE.

Genetic counseling is recommended for families of patients with the congenital form of acrodermatitis enteropathica.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Acrodermatitis Enteropathica

References

TEXTBOOKS
McGrath JA, Bleck O. Acrodermatitis Enteropathica. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:94.

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:53-54.

Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:914.

Champion RH, Burton JL, Ebling FJG. Eds. Textbook of Dermatology. 5th ed. Blackwell Scientific Publications. London, UK; 1992:2373.

REVIEW ARTICLES
Chimienti F, Aouffen M, Favier A, et al. Zinc homeostasis-regulating proteins: new drug targets for triggering cell fate. Curr Drug Targets. 2003;4:323-38.

Perafan-Riveros C, Franca LF, Alves AC, et al. Acrodermatitis enteropathica: case report and review of the literature. Pediatr Dermatol. 2002;19:426-31.

Bleck O, McGrath JA, South AP. Searching for candidate genes in the new millennium. Clin Exp Dermatol. 2001;26:279-83.

Sehgal VN, Jain S. Acrodermatitis enteropathica. Clin Dermatol. 2000;18:745-48.

Fraker PJ, King LE, Laakko T, et al. The dynamic link between the integrity of the immune system and zinc status. J Nutr. 2000;130(5S Suppl):1399S-406S.

JOURNAL ARTICLES
Kharfi M, El Fékih N, Aounallah-Skhiri H, Schmitt S, Fazaa B, Küry S, Kamoun MR. Acrodermatitis enteropathica: a review of 29 Tunisian cases. Int J Dermatol. 2010;49:1038-44.

Brar BK, Pall A, Gupta RR. Acrodermatitis enteropathica-like rash in an exclusively breast fed infant with zinc deficiency. J Dermatol. 2003;30:259-60.

Patrizi A, Bianchi F, Neri I, et al. Acrodermatitis enteropathica-like eruption: a sign of malabsorption in cystic fibrosis. Pediatr Dermatol. 2003;20:187-88.

Kury S, Dreno B, Bezieau S, et al. Identification of SLC39A4, a gene involved with acrodermatitis enteropathica. Nat Genet. 2002;31:239-40.

Wang K, Zhou B, Kuo YM, et al. A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. Am J Hum Genet. 2002;71:66-73.

Radja N, Charles-Holmes R. Acrodermatitis enteropathica - lifelong follow-up and zinc monitoring. Clin Exp Dermatol. 2002;27:62-63.

Bleck O, Ashton GH, Mallipeddi R, et al. Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate in different clinical variants of acrodermatitis enteropathica. Arch Dermatol Res. 2001;293:392-96.

Kury S, Devilder MC, Avet-Loiseau H, et al. Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica. Hum Genet. 2001;109:178-85.

FROM THE INTERNET
Siva Subramanian KN. Acrodermatitis Enteropathica. EMedicine. Last Updated: August 16, 2010 www.emedicine.com/ped/topic3011.htm

Saudubray J-M. Acrodermatitis enteropathica, zinc deficiency type. Orphanet, March 2004. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=37&lng=EN

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Acrodermatitis Enteropathica, Zinc-deficiency Type; AEZ. Entry Number; 201100: Last Edit Date; 9/18/09. http://omim.org/entry/201100

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2012/01/05 00:00:00 GMT+0

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