Acrodermatitis enteropathica – diagnostic challenges

Abstract Background: Acrodermatitis enteropathica is a rare genetic metabolic disorder which results in poor absorption of zinc ions in digestive tract. Zinc is an important microelement in human body, that plays a crucial role in many metabolic and biochemical pathways in organism. Classic clinical manifestation of zinc deficiency, seen in about 20% of cases, is the triad of symptoms – acral and periorificial dermatitis, diarrhea and alopecia. Results : Here, we report a case of 16 months-old girl with atypical course of acrodermatitis enteropathica. First skin lesions appeared after infancy and initially presented as blisters treated as erythema multiforme without success. In that time epidermolysis bullosa was also considered by doctors. One month later the patient developed more severe clinical picture containing erythematous plaques, paronychia, alopecia suggesting acrodermatitis enteropathica, however laboratory test showed zinc serum level within reference ranges. Since anti-inflammatory topical corticosteroids and antibiotics used for a few weeks were not effective, further diagnostic procedures were introduced. Direct immunofluorescence excluded autoimmune skin disorders, whereas genetic study showed pathogenic mutation characteristic of acrodermatitis enteropathica in SCL39A4 gene. Although serum zinc level was normal, we observed theatrical improvement of healing skin lesions only after initiation of oral supplementation of zinc. Conclusions: Blisters and erythematous plaques especially located in traumatized areas developing in children may suggest several severe disorders like epidermolysis bullosa, linear IgA bullous dermatosis, epidermolytic ichthyosis, erythema multiforme, therefore we recommend rapid diagnostics containing immunological, genetic and biochemical tests in such cases, because making a proper diagnosis allows rapid initiation of a proper treatment and can improve life quality of patients and prevent distant consequences like mental and physical retardation in cases of metabolic disorders.