Acrodermatitis Enteropathica

acrodermatitis enteropathica is a disorder of zinc  metabolism that occurs in one of three forms, an inborn (congenital ),form and two acquired forms . the inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that lead to the absorb zinc from intestine.

background

acrodermatitis enteropathica is a rare inherited form of zinc deficiency that was initially described by Brandt in 1936 and subsequently identified as a definite disease by Danbolt and Closs in 1942

pathogenesis

acrodermatitis enteropathica is an autosomal recessive disorder occurring as a result of mutations in the SCL39A4 gene located on band 8q24.3 .this gene encodes a transmembrane protein that is part of zinc /iron regulated transporter like proteins {ZIP} family required for zinc uptake.the protein is  highly expressed in the enterocytes in the duodenum and jejunum. An absence of  a binding ligand  needed to transport ZINC may further contribute to ZINC malabsorption


Etiology
genetic mutations of ZINC ligand binding protein ZIP4 .ZIP4 is a member of  the ZINC family.and it s a histidine rich transmembrane protein that is especially expressed on the apical side of the enterocytes in the small intestine as well as in the kidney and is responsible for ZINC absorption

physical examination
general infants are typically irritable and often inconsolable ,and they show a slowing or cessation of growth and development
Skin; although sharply demarcated eczematous and psoriasiform patches and plaques with peripheral scale and crust are the most common cutaneous findings ,erosive and vesiculobullous and pustular lesions also can occur

Mucosa; findings include angular cheilitis, glossitis, conjunctivitis, blepharitis,

nails; paronychia and nail dystrophy are typical

Hair; patients have loss of scalp hair,eye brows and eye lashes

Diagnosis

lab findings
plasma ZINC levels   should be tested, Plasma ZINC level less than 50 mcg/dl are suggestive ,but not diagnostic ,of acrodermatitis enteropathica

Hair ,saliva or urine ZINC levels can be obtained but are rarely needed

Alkaline phosphatase is a zinc dependent enzyme enzyme ,reduced serum levels of alkaline phosphatase in the context of normal ZINC levels can be indicate a ZINC deficiency,however alkaline phosphatase levels are typically not decreased unless the individual has advanced condition
analysis of maternal breast milk ZINC concentrations may help in differentiating acrodermatitis enteropathica from acquired ZINC deficiency

Management
diet; no special diet is required for acrodermatitis enteropathica patients as long as ZINC supplementation is continued, certain foods contain increased levels of ZINC including oysters, crab, pork and beef actually directly related to protein content

long term monitoring is critical for acrodermatitis enteropathica patients to ensure proper growth and development
treatment of acrodermatitis enteropathica requires life long ZINC supplementation typically 1-3mg/kg of ZINC gluconate or sulfate is administered orally each day








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