Acrodermatitis enteropathica E83.2

Authors: Prof. Dr. med. Peter Altmeyer, Prof. Dr. med. Martina Bacharach-Buhles

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

acrodermatitis enteropathica; Brandt Syndrome; Danbolt (Closs) syndrome; Danbolt-Closs Syndrome; Zinc Deficiency Syndrome

History
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Brandt, 1936; Danbolt and Closs, 1942

Definition
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Rare, autosomal recessive inherited disease in which vesiculo-pustular, sometimes also eczematous, pluriorifcial (perioral, genitoanal) and acral skin changes, diarrhoea and alopecia occur due to insufficient absorption of the zinc contained in normal food. Similar symptoms occur in acquired zinc deficiency dermatoses.

Etiopathogenesis
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  • The congenital, autosomal recessive inherited primary zinc absorption disorder (gene locus 8q24.3) is discussed. SLC39A4, which encodes the ZIP4 protein, was identified as the defective gene. The absence of this zinc binding factor (soluble carrier SLC39A4) in the small intestine, which is present in breast milk but not in cow's milk, leads to a decrease in zinc absorption to 2-3% of normal levels.
  • Secondary zinc deficiency has been described in chronic inflammatory diseases of the gastrointestinal tract ( Crohn's disease, ulcerative colitis), celiac disease, small bowel resections, small bowel fistulas, as well as in parental or unbalanced nutrition and alcoholic cirrhosis of the liver. It is suspected that the specific zinc-binding ligand normally present in the intestine is formed incorrectly; only small amounts of zinc enter the bloodstream.
  • Acquired form: Among other things in alcoholism due to insufficient zinc intake/supply with food.
  • Apparently, a zinc deficiency leads to a complete or partial loss of Langerhans cells of the skin. This deficiency in turn seems to lead (at least in animal experiments) to an increase and chronification of eczema.
  • A zinc deficiency leads to complex metabolic disorders with regard to > 200 zinc-dependent metal proteases.

Manifestation
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In the hereditary form, the initial manifestation of the disease occurs in infancy, usually after weaning; in the secondary forms, it occurs weeks, months or years after the onset of the underlying disease causing the zinc deficiency.

Localization
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Symmetrical at the acra and body orifices (mouth, nose, anogenital region).

Clinical features
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  • Triad of acral and plurioriferal dermatitis, alopecia and recurrent diarrhea.
  • Integument: Clinically there are very heterogeneous pictures with confluent erythema as well as blisters, pustules, crusts or scabs. In more chronic cases there are recurrent eczematous or ichthyosiform skin lesions, partly craquelé-like, acneiform folliculitis as well as perioriferal and acral persistent psoriasiform erythema. Diffuse alopecia of the scalp, eyebrows and eyelashes; chronic paronychia with nail dystrophies, also Beau-Reil furrows.
  • Extracutaneous manifestations: recurrent diarrhoea, reduced general condition with growth disturbances, recurrent superinfections ( Candida albicans), delayed wound healing; also psychological abnormalities. Also: glossitis, stomatitis, hoarseness, blepharitis, otitis, neurological disorders, growth retardation.

Histology
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Nonspecific: changing focal ortho- and parakeratosis with diminishing str. granulosum, variable acanthosis, also psoriasiform, partly ballooning keratinocytes, also focal acantholysis; partly subcorneal vesicles. Dermis with unspecific infiltrate, also neutrophil granulocytes.

Diagnosis
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Strong decrease of serum zinc level, reduced activity of alkaline phosphatase in serum. Smear from the skin lesions usually results in colonization with Candida albicans and/or bacterial superinfection.

Differential diagnosis
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Internal therapy
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  • Substitution with zinc compounds (5 mg/kg bw/day), under regular control of serum zinc levels (normal 80-120 μg/dl) and zinc excretion in 24-hour urine (normal 200-500 μg/24 hrs). Zinc should not be taken with meals.

Progression/forecast
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Prompt healing after the start of substitution.

Literature
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  1. Brandt T (1936) Dermatitis in children with disturbances of the general condition and the absorption of food elements Acta Dermatol Venereol (Stockh) 17: 513-546
  2. Brar BK et al (2003) Acrodermatitis enteropathica-like rash in an exclusively breast fed infant with zinc deficiency. J Dermatol 30: 259-260
  3. Danbolt N, Closs K (1942) Acrodermatitis enteropathica. Acta Dermatol Venereol 23: 127-169
  4. Fölster-Holst R, Höger P (2010) Pustular skin diseases of the newborn. JDDG 7: 569-579
  5. Kawamura Tet al. (2012) Severe dermatitis with loss of epidermal Langerhans cells in human and mouse zinc deficiency. J Clin Invest. 122:722-732.
  6. Katayama I, Koizumi S, Kodama T, Nakao A, Shimada S.
  7. Kury S, Dreno B et al (2002) Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nat Genet 31: 239-240
  8. Löffler H, Effendy I (1999) Acrodermatitis-enteropathica-like skin changes due to parenteral nutrition. dermatologist 50: 499-502
  9. Maverakis et al (2007) Acrodermatitis enteropathica and an overview of zinc metabolism. J Am Acad Dermatol 56: 116-124
  10. Nakano A et al (2003) Novel SLC39A4 mutations in acrodermatitis enteropathica. J Invest Dermatol 120: 963-966
  11. Neldner KH (1987) Acrodermatitis enteropathica and other zinc-deficiency disorders. In: Fitzpatrick TB et al. Dermatology in general medicine. 3rd ed. 1613-1619
  12. Patrizi A et al (2003) Acrodermatitis enteropathica-like eruption: a sign of malabsorption in cystic fibrosis. Pediatric Dermatol 20: 187-188
  13. Perafan-Riveros C (2002) Acrodermatitis enteropathica: case report and review of the literature. Pediatric Dermatol 19: 426-431
  14. Quirk CM et al (2002) Acrodermatitis enteropathica associated with anorexia nervosa. JAMA 288: 2655-2666
  15. Sandstrom B et al (1994) Acrodermatitis enteropathica, zinc metabolism, copper status, and immune function. Arch Ped 148: 980-985
  16. Von Velber V et al (2010) Acrodermatitis-enteropathica-like skin changes in Crohn's disease zinc deficiency. Dermatologist 61: 927-929

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