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Latest revision as of 18:17, 28 July 2014

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Jesus Rosario Hernandez, M.D. [2]

Synonyms and keywords: Brandt syndrome, Danbolt-Cross syndrome, Congenital zinc deficiency

Overview

Acrodermatitis enteropathica is an autosomal recessive disorder characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea.

Pathogenesis

Acrodermatitis enteropathica follows an autosomal recessive pattern of inheritance.

Genetics

The genetic mutation of SLC39A4 gene on Chromosome 8q locus 24.3 appears to be the cause. The SLC39A4 gene appears to encode 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. This has led some scientists to suspect that human milk contains a beneficial substance that helps uptake of zinc and prevents the disease from being manifested while an infant is on breast milk.

Differential Diagnosis

Similar features may be present in acquired zinc deficiency.

Diagnosis

History and Symptoms

Features of acrodermatitis enteropathica start appearing in the first few months of life, as the infant discontinues breast milk. As skin lesions appear, diarrhea may be present.

Physical Examination

Skin

There are erythematous patches and plaques of dry, scaly skin. The lesions may appear eczematous, or may evolve further into crusted vesicles , bullas or pustules. The lesions are frequent around natural orifices like the mouth (peri-oral) and anus (peri-anal), and also in hands, feet and scalp. There may be suppurative inflammation of the nail fold surrounding the nail plate - known as paronychia. Alopecia - loss of hair from scalp, eyebrows and eyelashes may occur. The skin lesions may be secondarily infected by bacteria such as Staphylococcus aureus or fungi like Candida albicans. These skin lesions are accompanied by diarrhea.

Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. 'With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]
Acrodermatitis enteropathica. With permission from Dermatology Atlas.^[1]

Treatment

Without treatment, the disease is fatal and affected individuals may die within a few years. Lifelong dietary zinc supplementation in the range of greater than 1-2 mg/kg of bodyweight per day is usually required.

Organizations and resources

The following organizations provide information and patient support resources:

References

↑ ^1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 ^1.10 ^1.11 ^1.12 ^1.13 ^1.14 ^1.15 ^1.16 ^1.17 ^1.18 ^1.19 ^1.20 ^1.21 ^1.22 ^1.23 ^1.24 ^1.25 "Dermatology Atlas".

Template:Metabolic pathology

[www.atlasdermatologico.com.br-1] 1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 ^1.10 ^1.11 ^1.12 ^1.13 ^1.14 ^1.15 ^1.16 ^1.17 ^1.18 ^1.19 ^1.20 ^1.21 ^1.22 ^1.23 ^1.24 ^1.25 "Dermatology Atlas".

[1]

@@ Line 1: / Line 1: @@
-{{Infobox_Disease |
+__NOTOC__
-  Name           = Acrodermatitis enteropathica |
-  Image          = |
-  Caption        = |
-  DiseasesDB     = 29602 |
-  ICD10          = {{ICD10|E|83|2|e|70}} |
-  ICD9           = |
-  ICDO           = |
-  OMIM           = 201100 	 |
-  MedlinePlus    = |
-  eMedicineSubj  = derm|
-  eMedicineTopic = 5 |
-  MeshID         = |
-}}
 {{SI}}
-{{CMG}}
+{{CMG}}; {{AE}} {{JH}}
-{{EH}}
+{{SK}} Brandt syndrome, Danbolt-Cross syndrome, Congenital zinc deficiency
 ==Overview==
-'''Acrodermatitis enteropathica''' is an [[autosomal]] [[recessive]] disorder characterized by periorificial (around the natural orifices) and acral (in the limbs) [[dermatitis]], [[alopecia]] (loss of hair), and [[diarrhea]]. Similar features may be present in [[acquired]] [[zinc]] deficiency. This disease also is related to deficiency of zinc due to congenital causes.
+'''Acrodermatitis enteropathica''' is an [[autosomal]] [[recessive]] disorder characterized by periorificial (around the natural orifices) and acral (in the limbs) [[dermatitis]], [[alopecia]] (loss of hair), and [[diarrhea]].
-Some synonyms of this condition are:
-* Brandt Syndrome
-* Danbolt-Cross Syndrome
-* Congenital Zinc Deficiency
 ==Pathogenesis==
-The genetic [[mutation]] of [[SLC39A4]] gene on [[Chromosome 8]]q [[Locus (genetics)|locus]] 24.3 appears to be the cause. The SLC39A4 gene appears to encode 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. This has led some scientists to suspect that human milk contains a beneficial substance that helps uptake of [[zinc]] and prevents the disease from being manifested while an infant is on breast milk.
+{| style="float: right;"
+| [[Image:autorecessive.png|thumb|none|Acrodermatitis enteropathica follows an autosomal recessive pattern of [[inheritance]].]]
+|}
-==Presentation==
+===Genetics===
-Features of acrodermatitis enteropathica start appearing in the first few months of life, as the infant discontinues breast milk. There are [[erythematous]] patches and plaques of dry, scaly skin. The lesions may appear [[eczema]]tous, or may evolve further into crusted [[vesicle]]s , [[Blister|bulla]]s or [[pustule]]s. The lesions are frequent around natural orifices like the mouth (peri-oral) and anus (peri-anal), and also in hands, feet and [[scalp]].
+The genetic [[mutation]] of [[SLC39A4]] gene on [[Chromosome 8]]q [[Locus (genetics)|locus]] 24.3 appears to be the cause. The [[SLC39A4]] gene appears to encode 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. This has led some scientists to suspect that human milk contains a beneficial substance that helps uptake of [[zinc]] and prevents the disease from being manifested while an infant is on breast milk.
+==Differential Diagnosis==
+Similar features may be present in [[acquired]] [[zinc deficiency]].
+==Diagnosis==
+===History and Symptoms===
+Features of acrodermatitis enteropathica start appearing in the first few months of life, as the infant discontinues breast milk. As skin lesions appear, diarrhea may be present.
+===Physical Examination===
+====Skin====
+There are [[erythematous]] patches and plaques of dry, scaly skin. The lesions may appear [[eczema]]tous, or may evolve further into crusted [[vesicle]]s , [[Blister|bulla]]s or [[pustule]]s. The lesions are frequent around natural orifices like the mouth (peri-oral) and anus (peri-anal), and also in hands, feet and [[scalp]].
 There may be [[suppurative]] [[inflammation]] of the nail fold surrounding the [[nail plate]] - known as [[paronychia]]. [[Alopecia]] - loss of hair from scalp, eyebrows and eyelashes may occur. The skin lesions may be secondarily infected by [[bacteria]] such as [[Staphylococcus aureus]] or [[fungus|fungi]] like [[Candida albicans]]. These skin lesions are accompanied by diarrhea.
+<gallery>
+Image:Acrodermatitis_enteropathica_01.png|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_03.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_04.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_05.png|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_06.png|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_07.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_08.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_09.png|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_10.png|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_11.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_12.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_13.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_14.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_15.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_16.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_18.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_19.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_20.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_21.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_22.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_23.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_24.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_25.jpeg|Acrodermatitis enteropathica. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_26.jpeg|Acrodermatitis enteropathica. '<SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_27.jpeg|Acrodermatitis enteropathica.  <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+Image:Acrodermatitis_enteropathica_28.jpeg|Acrodermatitis enteropathica.  <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12}}</ref></SMALL></SMALL>
+</gallery>
 ==Treatment==
-Without treatment, the disease is fatal and affected individuals may die within a few years. However, there is no absolute treatment of the condition. Lifelong dietary [[zinc]] supplementation in the range of greater than 1-2 [[milligram|mg]]/[[kilogram|kg]] of bodyweight per day is usually needed.
+Without treatment, the disease is fatal and affected individuals may die within a few years. Lifelong dietary [[zinc]] supplementation in the range of greater than 1-2 [[milligram|mg]]/[[kilogram|kg]] of bodyweight per day is usually required.
-==External links==
-*{{DermNet|systemic/acrodermatitis-enteropathica}}
-*[http://www.webmd.com/hw/raising_a_family/nord511.asp WebMD article]
-*[http://www.thedoctorsdoctor.com/diseases/acrodermatitis_enteropathica.htm Doctor's doctor article]
-*[http://dermis.multimedica.de/dermisroot/en/43472/diagnose.htm Dermis.net article with images]
 ==Organizations and resources==
@@ Line 48: / Line 95: @@
 *[http://www.niddk.nih.gov NIH/National Digestive Diseases Information Clearinghouse]
-{{SIB}}
+==References==
+{{Reflist|2}}
 {{Metabolic pathology}}
@@ Line 55: / Line 105: @@
 [[Category:Genetic disorders]]
 [[Category:Dermatology]]
-<br>
-[[pl:Acrodermatitis enteropathica]]
 [[Category:Inborn errors of metabolism]]
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-{{WikiDoc Sources}}