Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function

Acrodermatitis enteropathica (AE) is a rare autosomal recessive disease tha t results from an unknown defect in zinc metabolism and usually occurs in t he first year of life. Zinc is required for the structure and activity of s imilar to 300 metalloenzymes. Therefore, every system could be affected fun ctionally or structurally by this defect. An 11-year-old girl presented wit h rashes around mucocutaneous junctions, periorbital and perianal areas, an d on the extremities. These clinical signs and symptoms had started when sh e was 3.5 months old. She was the third child of healthy parents who are se cond cousins. One of her brothers had died with similar manifestations when he was 3 years old. In the initial physical examination, growth retardatio n, partial alopecia, squamous skin eruptions around the body orifices, pust ular lesions on her knees and hands, dystrophic changes of the finger and t oe nails, and taste dysfunction were prominent findings. Laboratory results revealed: haemoglobin: 12.3 gr/dl; WBC: 7,300/mm(3); platelet count: 402,0 00/mm(3); serum iron: 152 mu g/dl; total iron binding capacity: 501 mu g/dl ; transferrin saturation: 25.1%; serum cu level: 118 mu g/dl (123-187 mu g/ dl); and alkaline phosphatase :18 IU/L (98-279 U/L). Serum electrolytes, he patic, and renal function tests were normal. Zinc levels in different body compartments were decreased (plasma Zn: 20 mu g/dl; erythrocyte Zn: 5.7 mu g/ml; hair Zn: 116.6 mu g/g) with normal zinc absorption. Zinc 65 absorptio n and retention test showed initial elevation, but decreased rapidly after the fourth day compared to the controls and her other family members. By el ectron microscopy, intestinal mucosal biopsy revealed paneth cel inclusions . Lymphocyte subpopulations and results of neutrophil chemotaxis also showe d some abnormalities. Pathological clinical findings and symptoms totally d isappeared in a few weeks with oral zinc therapy (ZnSO4, 2 mg/kg/day). J. T race Elem. Exp. Med. 13:317-325, 2000. (C) Wiley-Liss, Inc.