Acrodermatitis enteropathica: Difference between revisions
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{{Infobox medical condition | {{Infobox medical condition | ||
| name = Acrodermatitis enteropathica | | name = Acrodermatitis enteropathica | ||
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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'''. | 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 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. | ||
== '''Cause''' == | == '''Cause''' == | ||
* The inherited form is caused by mutations in the '''SLC39A4 gene'''. | * The inherited form is caused by mutations in the '''SLC39A4 gene'''. | ||
* The acquired form can result from diets lacking the appropriate amount of zinc. | * The acquired form can result from diets lacking the appropriate amount of zinc. | ||
== '''Inheritance''' == | == '''Inheritance''' == | ||
It is inherited in an [[autosomal recessive]] pattern. | It is inherited in an [[autosomal recessive]] pattern. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
Individuals with acrodermatitis enteropathica may present with the following: | Individuals with acrodermatitis enteropathica may present with the following: | ||
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* [[Pustule]] | * [[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]]. | * [[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]]. | ||
== '''Clinical presentation''' == | == '''Clinical presentation''' == | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
'''80%-99% of people have these symptoms''' | '''80%-99% of people have these symptoms''' | ||
* Abnormal [[blistering]] of the skin(Blistering, generalized) | * Abnormal [[blistering]] of the skin(Blistering, generalized) | ||
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* Pustule(Pimple) | * Pustule(Pimple) | ||
* Short stature(Decreased body height) | * Short stature(Decreased body height) | ||
'''30%-79% of people have these symptoms''' | '''30%-79% of people have these symptoms''' | ||
* [[Blepharitis]](Inflammation of eyelids) | * [[Blepharitis]](Inflammation of eyelids) | ||
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* Ridged nail(Grooved nails) | * Ridged nail(Grooved nails) | ||
* Skin ulcer(Open skin sore) | * Skin ulcer(Open skin sore) | ||
'''5%-29% of people have these symptoms''' | '''5%-29% of people have these symptoms''' | ||
* [[Anorexia]] | * [[Anorexia]] | ||
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* Visual impairment(Impaired vision) | * Visual impairment(Impaired vision) | ||
* Weight loss | * Weight loss | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
The diagnosis of an individual with acrodermatitis enteropathica includes each of the following: | The diagnosis of an individual with acrodermatitis enteropathica includes each of the following: | ||
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* [[Light microscopy]](skin [[biopsy]]) | * [[Light microscopy]](skin [[biopsy]]) | ||
* [[Electron microscopy]] (histology) | * [[Electron microscopy]] (histology) | ||
== '''Treatment''' == | == '''Treatment''' == | ||
* Acrodermatitis enteropathica without treatment is fatal, and affected individuals may die within a few years. | * Acrodermatitis enteropathica without treatment is fatal, and affected individuals may die within a few years. | ||
* There is no cure for the condition. | * There is no cure for the condition. | ||
* '''Supplemental zinc''' usually eliminates the symptoms of acrodermatitis enteropathica. | * '''Supplemental zinc''' usually eliminates the symptoms of acrodermatitis enteropathica. | ||
{{Mineral metabolic pathology}} | {{Mineral metabolic pathology}} | ||
{{Diseases of the skin and subcutaneous tissue}} | {{Diseases of the skin and subcutaneous tissue}} | ||
{{Membrane transport protein disorders}} | {{Membrane transport protein disorders}} | ||
{{DEFAULTSORT:Acrodermatitis Enteropathica}} | {{DEFAULTSORT:Acrodermatitis Enteropathica}} | ||
[[Category:Autosomal recessive disorders]] | [[Category:Autosomal recessive disorders]] | ||
Latest revision as of 15:40, 9 April 2025
| Acrodermatitis enteropathica | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Diarrhea, dermatitis, alopecia |
| Complications | Growth retardation, immune deficiency |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Zinc deficiency due to SLC39A4 gene mutation |
| Risks | Genetic predisposition |
| Diagnosis | Clinical evaluation, serum zinc levels, genetic testing |
| Differential diagnosis | Biotinidase deficiency, essential fatty acid deficiency |
| Prevention | N/A |
| Treatment | Zinc supplementation |
| Medication | N/A |
| Prognosis | Good with treatment |
| Frequency | Rare |
| Deaths | N/A |
Alternate names[edit]
Acrodermatitis enteropathica zinc deficiency type; AEZ; Brandt syndrome; Danbolt-Cross syndrome; AE
Definition[edit]
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.
Cause[edit]
- The inherited form is caused by mutations in the SLC39A4 gene.
- The acquired form can result from diets lacking the appropriate amount of zinc.
Inheritance[edit]
It is inherited in an autosomal recessive pattern.
Signs and symptoms[edit]
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.
Clinical presentation[edit]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormal blistering of the skin(Blistering, generalized)
- Abnormal eyebrow morphology(Abnormality of the eyebrow)
- Alopecia(Hair loos)
- Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
- Chronic diarrhea
- Dry skin
- Erythema
- Malabsorption(Intestinal malabsorption)
- Pustule(Pimple)
- Short stature(Decreased body height)
30%-79% of people have these symptoms
- Blepharitis(Inflammation of eyelids)
- Cheilitis(Inflammation of the lips)
- Conjunctivitis(Pink eye)
- Emotional lability(Emotional instability)
- Failure to thrive(Faltering weight)
- Furrowed tongue(Grooved tongue)
- Glossitis(Inflammation of the tongue)
- Paronychia
- Photophobia(Extreme sensitivity of the eyes to light)
- Ridged fingernail(Longitudinally grooved fingernails)
- Ridged nail(Grooved nails)
- Skin ulcer(Open skin sore)
5%-29% of people have these symptoms
- Anorexia
- Corneal erosion(Damage to outer layer of the cornea of the eye)
- Poor appetite(Decreased appetite)
- Visual impairment(Impaired vision)
- Weight loss
Diagnosis[edit]
The diagnosis of an individual with acrodermatitis enteropathica includes each of the following:
- Plasma zinc level (lab)
- Light microscopy(skin biopsy)
- Electron microscopy (histology)
Treatment[edit]
- Acrodermatitis enteropathica without treatment is fatal, and affected individuals may die within a few years.
- There is no cure for the condition.
- Supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica.
| Inborn error of metal metabolism (E83, 275) | ||||
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| Dermatitis and eczema | ||||||||||
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| Genetic disorder, membrane: Solute carrier disorders | ||||||||
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see also solute carrier family
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NIH genetic and rare disease info[edit]
Acrodermatitis enteropathica is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Acrodermatitis enteropathica
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