Acrodermatitis enteropathica


Acrodermatitis enteropathica

Infobox_Disease
Name = Acrodermatitis enteropathica


Caption =
DiseasesDB = 29602
ICD10 = ICD10|E|83|2|e|70
ICD9 = ICD9|686.8
ICDO =
OMIM = 201100
MedlinePlus =
eMedicineSubj = derm
eMedicineTopic = 5
MeshID =

Acrodermatitis enteropathica is an autosomal recessivecite journal |pmid=11254458 |year=2001 |month=Apr |author=Wang, K; Pugh, Ew; Griffen, S; Doheny, Kf; Mostafa, Wz; Al-Aboosi, Mm; El-Shanti, H; Gitschier, J |title=Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3 |volume=68 |issue=4 |pages=1055–60 |pmc=1275625 |doi=10.1086/319514 |journal=American journal of human genetics] metabolic disorder affecting the uptake of zinc, 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.

Other names for "acrodermatitis enteropathica" include:

* Brandt Syndrome
* Danbolt-Cross Syndrome
* Congenital Zinc deficiency

Genetics

A mutation of the SLC39A4 gene on Chromosome 8 q24.3 is responsible for the disorder.cite journal |pmid=12068297 |year=2002 |month=Jul |author=Küry, S; Dréno, B; Bézieau, S; Giraudet, S; Kharfi, M; Kamoun, R; Moisan, Jp |title=Identification of SLC39A4, a gene involved in acrodermatitis enteropathica |volume=31 |issue=3 |pages=239–40 |doi=10.1038/ng913 |journal=Nature genetics] The SLC39A4 gene encodes 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.cite journal |pmid=12743795 |year=2003 |month=Aug |author=Michalczyk, A; Varigos, G; Catto-Smith, A; Blomeley, Rc; Ackland, Ml |title=Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk |volume=113 |issue=3 |pages=202–10 |doi=10.1007/s00439-003-0952-2 |journal=Human genetics]

ymptoms

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 eczematous, or may evolve further into crusted vesicles , bullas or pustules. The lesions are frequent around the mouth and anus, 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.

Treatment

Without treatment, the disease is fatal and affected individuals may die within a few years. There is no cure for the condition. Treatment includes lifelong dietary zinc supplementation in the range of greater than 1-2 mg/kg of bodyweight per day.

ee also

* Acrodermatitis

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]
* [http://groups.google.com/group/aecircle Google Group - Acrodermatitis Enteropathica Circle]

References


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