II. Epidemiology

  1. Associated with 1.8 million deaths per year in malnourished persons worldwide
  2. Zinc Deficiency is estimated to affect 30% of the world population

III. Pathophysiology

  1. See Zinc

IV. Symptoms

  1. Erectile Dysfunction
  2. Diarrhea
  3. Glossitis
  4. Photophobia
  5. Decreased appetite
  6. Irritability

V. Signs

  1. Growth retardation (especially head growth)
  2. Delayed Puberty
  3. Hypogonadism
  4. Conjunctivitis
  5. Alopecia
  6. Perioral Facial Rash
    1. U-Shaped pattern involving the cheeks and chin (but spares the upper lip)
    2. Sharply demarcated
    3. May appear similar to Impetigo
  7. Diaper Rash
    1. Symmetrical excoriated rash on the buttocks, perineum, and perianal regions
  8. Nail Dystrophy
    1. Soft, Dystrophic Nails
    2. Paronychia

VI. Associated Conditions

VII. Causes

  1. Acrodermatitis Enteropathica
    1. Autosomal Recessive mutation decreases zinc uptake and transport
    2. Results in zinc malabsorption syndrome (esp. at the small intestinal mucosa)
    3. Presents in infants weaned from Breast Milk
      1. Human Breast Milk contains adequate zinc to overcome transport mutation
  2. Malnutrition
    1. Developing countries
    2. Alcoholism
    3. Celiac Sprue
    4. Cirrhosis
    5. Crohn Disease
    6. Gastric Bypass
    7. Prolonged intravenous feeding
    8. Short bowel syndrome
    9. Vegan diet
  3. Pregnancy and Lactation
  4. Sickle Cell Disease
  5. Critically ill children (associated with organ failure)

VIII. Labs

  1. Serum zinc levels are not a reliable measure of zinc stores

IX. Diagnosis

  1. Zinc Deficiency is a clinical diagnosis rather than a lab diagnosis
  2. Base diagnosis on symptoms, signs, risk factors and overall Malnutrition

X. Management

  1. See Zinc for RDA levels
  2. Acrodermatitis Enteropathica (zinc uptake and transport disorder)
    1. Lifelong Zinc supplementation: 3 mg/kg/day of elemental zinc
    2. Dosing is high enough to overcome zinc transport defect
  3. Other Zinc Deficiency
    1. Elemental Zinc 0.5 to 1 mg/kg/day for 6 months or until symptoms resolve
    2. Typically dosed at 2-3x the RDA in mild deficiency (up to 4-5x in severe deficiency)

XI. Dosing: Zinc Deficiency

  1. Acrodermatitis Enteropathica (zinc uptake and transport disorder)
    1. Lifelong Zinc supplementation: 3 mg/kg/day of elemental zinc
    2. Dosing is high enough to overcome zinc transport defect
  2. Other Zinc Deficiency
    1. Elemental Zinc 0.5 to 1 mg/kg/day until symptoms resolve

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Related Studies

Ontology: Acrodermatitis enteropathica (C0221036)

Definition (CSP) severe human skin and gastrointestinal disease inherited as a recessive autosomal trait that is characterized by the symptoms of zinc deficiency and clears up when zinc is added to the diet.
Concepts Disease or Syndrome (T047)
MSH C538178
ICD10 E83.2
SnomedCT 37702000
Italian Acrodermatite enteropatica
Dutch enteropathische acrodermatitis, acrodermatitis; enteropathica, enteropathica; acrodermatitis, acrodermatitis enteropathica
German enteropathische Acrodermatitis, Acrodermatitis enterpathica, Acrodermatitis enteropathica
English ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE, AEZ, AE - Acrodermat enteropathica, acrodermatitis enteropathica, acrodermatitis enteropathica (diagnosis), hereditary zinc deficiency (diagnosis), hereditary zinc deficiency, hereditary acrodermatitis enteropathica, Enteropathic acrodermatitis, Acrodermatitis enterpatica, Acrodermatitis enteropathica zinc deficiency type, Acrodermatitis enteropathica, brandt syndrome, Acrodermatitis Enteropathica, Zinc-Deficiency Type, Danbolt-Closs syndrome, Brandt syndrome, Hereditary acrodermatitis enterohepatica, Primary zinc malabsorption syndrome, Primary zinc malabsorption, Hereditary acrodermatitis enteropathica, AE - Acrodermatitis enteropathica, Danbolt-Close syndrome, Hereditary acrodermatitis enteropathica (disorder), enteropathica; acrodermatitis, acrodermatitis; enteropathica
Czech Acrodermatitis enteropathica
Spanish síndrome de malaabsorción primaria de cinc, síndrome de malabsorción primaria de zinc, síndrome de malaabsorción primaria de zinc, síndrome de malabsorción primaria de cinc, acrodermitis enteropática hereditaria (trastorno), acrodermitis enteropática hereditaria, síndrome de Brandt, síndrome de Danbolt - Closs, Acrodermatitis enteropática
Hungarian Acrodermatitis enteropathica, Enteropathiás acrodermatitis, Acrodermatitis enterpatica
Japanese 腸性肢端皮膚炎, チョウセイシタンヒフエン
Portuguese Acrodermatite enteropática
French Acrodermatite entéropathique

Ontology: Zinc deficiency (C0235950)

Definition (NCI) A genetic or acquired metabolic disorder that is associated with zinc deficiency in the tissues.
Concepts Disease or Syndrome (T047)
SnomedCT 367102002, 238124008
English ZINC DEFICIENCY, zinc deficiency (diagnosis), zinc deficiency, Zinc decreased, Zn levels low, Zinc low, Zn++ low, deficiency zinc, low zinc, deficiencies zinc, Zinc Deficiency Disorder, Zinc deficiency, Zinc deficiency (disorder), deficiency; zinc, zinc; deficiency
Italian Carenza di zinco, Zinco basso, Livelli di zinco bassi, Zinco diminuito, Zn++ basso
Dutch zink verlaagd, zink laag, Zn-spiegels laag, Zn++ laag, deficiëntie; zink, zink; deficiëntie, zinkdeficiëntie
French Taux de zinc bas, Zn++ bas, Zinc bas, Zinc diminué, DEFICIT DU ZINC, Carence en zinc
German Zink erniedrigt, Zink niedrig, Zinkspiegel niedrig, Zn++ niedrig, ZINKMANGEL, Zinkmangel
Portuguese Concentrações baixas de Zn, Zinco baixo, Zn++ baixo, Zinco diminuído, DEFICIENCIA EM ZINCO, Carência de zinco
Spanish Cinc bajo, Cinc disminuido, Zn++ bajo, Niveles bajos de Zn, ZINC, DEFICIENCIA, deficiencia de zinc, deficiencia de zinc (trastorno), deficiencia de cinc (trastorno), deficiencia de cinc, Déficit de cinc
Japanese 亜鉛欠乏, 亜鉛減少, アエンケツボウ, アエンゲンショウ, 亜鉛濃度低値, Zn++テイチ, アエンノウドテイチ, Zn++低値, アエンテイチ, 亜鉛低値
Czech Nízký zinek, Nízký Zn++, Snížený Zn, Deficit zinku, Nízké hladiny Zn
Hungarian Cink csökkent, Cink alacsony, Zn++ alacsony, Zn szint alacsony, Cink hiány