Rare Infectious Disease News

Disease Profile

Acrodermatitis enteropathica

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

E83.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Acrodermatitis enteropathica zinc deficiency type; AEZ; Brandt syndrome;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders;

Summary

Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur. The inherited form is caused by mutations in the SLC39A4 gene and inherited in an autosomal recessive pattern. The acquired form can result from diets lacking the appropriate amount of zinc. Supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters

[ more ]

0008066
Abnormal eyebrow morphology
Abnormality of the eyebrow
0000534
Alopecia
Hair loss
0001596
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Chronic diarrhea
0002028
Dry skin
0000958
Erythema
0010783
Malabsorption
Intestinal malabsorption
0002024
Pustule
Pimple
0200039
Short stature
Decreased body height
Small stature

[ more ]

0004322
30%-79% of people have these symptoms
Blepharitis
Inflammation of eyelids
0000498
Cheilitis
Inflammation of the lips
0100825
Conjunctivitis
Pink eye
0000509
Emotional lability
Emotional instability
0000712
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Furrowed tongue
Grooved tongue
0000221
Glossitis
Inflammation of the tongue
Smooth swollen tongue

[ more ]

0000206
Paronychia
0001818
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Ridged fingernail
Longitudinally grooved fingernails
0008402
Ridged nail
Grooved nails
Nail ridging

[ more ]

0001807
Skin ulcer
Open skin sore
0200042
5%-29% of people have these symptoms
Anorexia
0002039
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Poor appetite
Decreased appetite
0004396
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
Weight loss
0001824
Percent of people who have these symptoms is not available through HPO
Alopecia of scalp
Pathologic hair loss from scalp
Scalp hair loss

[ more ]

0002293
Ataxia
0001251
Autosomal recessive inheritance
0000007
Decreased serum testosterone level
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels

[ more ]

0040171
Decreased testicular size
Small testes
Small testis

[ more ]

0008734
Diarrhea
Watery stool
0002014
Hepatomegaly
Enlarged liver
0002240
Hypogeusia
Decreased taste
Decreased taste sensation

[ more ]

0000224
Hypogonadism
Decreased activity of gonads
0000135
Impaired T cell function
T-cell dysfunction
0005435
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Irritability
Irritable
0000737
Lethargy
0001254
Low alkaline phosphatase
Decreased serum alkaline phosphatase
0003282
Recurrent candida infections
0005401
Splenomegaly
Increased spleen size
0001744
Tremor
0001337

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Acrodermatitis enteropathica. Click on the link to view a sample search on this topic.

References

  1. Acrodermatitis enteropathica . National Organization for Rare Disorders (NORD). 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/511/viewAbstract. Accessed 11/9/2011.