Acrodermatitis enteropathica

Acrodermatitis enteropathica is an autosomal

Acrodermatitis enteropathica
recessive metabolic disorder affecting the uptake of
zinc through the inner lining of the bowel, the mucous Other Acrodermatitis enteropathica,
membrane. It is characterized by inflammation of the names zinc deficiency type[1]
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.[3][4]

Other names for acrodermatitis enteropathica include

Brandt syndrome and Danbolt–Cross syndrome.[5]

Contents
Signs and symptoms
Genetics
Diagnosis
Treatment
See also Acrodermatitis enteropathica inheritance
References Specialty Endocrinology
Further reading Symptoms Dry skin, Emotional lability,
External links Blistering of skin[2]
Causes Mutation of the SLC39A4 gene[3]
Diagnostic Skin biopsy, Plasma zinc level[3]
Signs and symptoms method
Individuals with acrodermatitis enteropathica may Treatment Dietary zinc supplementation[1]
present with the following:[2]

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.[6]

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
Chr 8 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.[3][1][7][8]

Diagnosis
The diagnosis of an individual with acrodermatitis enteropathica includes each of the
following:[3]

Plasma zinc level (lab)

Light microscopy (skin biopsy)
Electron microscopy (histology)
Electron
Microscope
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.[1]

See also
Acrodermatitis

References
1. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Acrodermatitis enteropathica" (htt
p://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37). www.orpha.net.
Retrieved 18 February 2017.
2. "Acrodermatitis enteropathica | Genetic and Rare Diseases Information Center (GARD) –
an NCATS Program" (https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-entero
pathica). rarediseases.info.nih.gov. Retrieved 2017-02-18.
3. "Acrodermatitis Enteropathica: Background, Pathophysiology, Epidemiology" (http://emedici
ne.medscape.com/article/1102575-overview). 2017-01-10.
4. Sehgal, V. N.; Jain, S. (2000-11-01). "Acrodermatitis enteropathica" (http://dergipark.gov.tr/t
btkmedical/issue/12359/148153). Clinics in Dermatology. 18 (6): 745–748.
doi:10.1016/s0738-081x(00)00150-4 (https://doi.org/10.1016%2Fs0738-081x%2800%2900
150-4). ISSN 0738-081X (https://www.worldcat.org/issn/0738-081X). PMID 11173209 (http
s://www.ncbi.nlm.nih.gov/pubmed/11173209).
5. Stedman, Thomas Lathrop. 2005. Stedman's Medical Eponyms. Baltimore: Lippincott
Williams & Wilkins, p. 170.
6. "Acrodermatitis Enteropathica, DermNet New Zealand" (https://www.dermnetnz.org/topics/a
crodermatitis-enteropathica/).
7. Reference, Genetics Home. "SLC39A4 gene" (https://ghr.nlm.nih.gov/gene/SLC39A4).
Genetics Home Reference. Retrieved 2017-02-18.
8. Kasana, Shakhenabat; Din, Jamila; Maret, Wolfgang (1 January 2015). "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. 29: 47–62. doi:10.1016/j.jtemb.2014.10.003 (https://doi.o
rg/10.1016%2Fj.jtemb.2014.10.003). PMID 25468189 (https://www.ncbi.nlm.nih.gov/pubme
d/25468189). – via ScienceDirect (Subscription may be required or content may be
available in libraries.)

Further reading
Beigi, Pooya Khan Mohammd; Maverakis, Emanual (2015). Acrodermatitis Enteropathica: A
Clinician's Guide (https://books.google.com/?id=Vx0_CgAAQBAJ&pg=PA54&dq=acroderm
atitis+enteropathica+treatment#v=onepage&q=acrodermatitis%20enteropathica%20treatme
nt&f=false). Springer. ISBN 9783319178196. Retrieved 18 February 2017.
"OMIM Entry - # 201100 - ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY
TYPE; AEZ" (https://www.omim.org/entry/201100?search=number%3A%28201100%20O
R%20607059%29&highlight=607059%20201100). www.omim.org. Retrieved 18 February
2017.
Gupta, Mrinal; Mahajan, Vikram K.; Mehta, Karaninder S.; Chauhan, Pushpinder S. (1
January 2014). "Zinc Therapy in Dermatology: A Review" (https://www.ncbi.nlm.nih.gov/pm
c/articles/PMC4120804). Dermatology Research and Practice. 2014: 709152.
doi:10.1155/2014/709152 (https://doi.org/10.1155%2F2014%2F709152). ISSN 1687-6105
(https://www.worldcat.org/issn/1687-6105). PMC 4120804 (https://www.ncbi.nlm.nih.gov/pm
c/articles/PMC4120804). PMID 25120566
(https://www.ncbi.nlm.nih.gov/pubmed/25120566).

External links
Classification ICD-10: E83.2 (htt D
p://apps.who.int/cla
ssifications/icd10/br
owse/2016/en#/E8
3.2) (ILDS E83.210)
· ICD-9-CM: 686.8
(http://www.icd9dat
a.com/getICD9Cod
e.ashx?icd9=686.8)
· OMIM: 201100 (htt
ps://omim.org/entry/
201100) · MeSH:
C538178 (https://w
ww.nlm.nih.gov/cgi/
mesh/2015/MB_cg
i?field=uid&term=C
538178) ·
DiseasesDB:
29602 (http://www.d
iseasesdatabase.co
m/ddb29602.htm)
 External eMedicine: derm/5
resources (https://emedicine.
medscape.com/der
m/5-overview)

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