Acrodermatitis enteropathica.
A 13-year-old girl presented with a history of red scaly plaques involving the chest, arms and legs beginning in infancy. Punch biopsy revealed psoriasiform hyperplasia and pallor of the epidermis. The patient's serum zinc level was 36 mug/dl [nl. 66-144 mug/dl]. A diagnosis of acrodermatitis enteropathica was established and the patient responded well to zinc replacement therapy. Acrodermatitis enteropathica is a rare autosomal recessive disorder caused by mutations in SLC39A4, which encodes the tissue-specific zinc transporter ZIP4.
Maverakis
Emanual
E
University of California, Davis Department of Dermatology, USA.
Lynch
Peter J
PJ
Fazel
Nasim
N
D000169:Acrodermatitis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D000293:Adolescent; D001252:Astringents / Q000627:therapeutic use; D001706:Biopsy; D027682:Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D012867:Skin / Q000378:metabolism / Q000473:pathology; D015032:Zinc / Q000097:blood / Q000172:deficiency*; D019287:Zinc Sulfate / Q000627:therapeutic use*
D001252:Astringents; D027682:Cation Transport Proteins; C486791:SLC39A4 protein, human; D019287:Zinc Sulfate; D015032:Zinc