Acrodermatitis enteropathica: Recent findings concerning clinical features, pathogenesis, diagnosis and therapy

Abstract

Acrodermatitis enteropathica (AE) was diagnosed in 2 siblings, boy and girl, at the age of 10 and 6 weeks. The family history is unremarkable except for consanguinity 5 generations previously. The clinical symptoms of the 2 patients conformed to the known features of AE, the gastrointestinal involvement loosing its significance with increasing age. In one patient in a stage of exacerbation the serum level of oleic acid (18:1) was lowered and of linoleic (18:2) acid slightly increased while that of arachidonic acid was decreased (Fig. 4). In both patients the serum zinc levels were significantly lowered. Under substitution with ZnSO4 the clinical condition improved and the serum zinc levels returned to normal. Histologically the small bowel mucosa was practically normal. Ultrastructural examination of jejunal biopsies revealed rather unspecific changes in the enterocytes in the form of numerous multivesicular bodies. The Paneth cells sometimes contained irregularly formed inhomogeneous structures within their cytoplasm. In addition the secretory granules varied in size and displayed a granular heteromorphic matrix. Frequently they were confluent and formed giant granules.

Mutation spectrum of humanSLC39A4in a panel of patients with acrodermatitis enteropathica

“…Pathognomonic features of the disease are symmetrical acral and circumorificial dermatitis, generalized alopecia and diarrhea (Braun et al,, 1976;Danbolt, 1979;Van Wouwe, 1989). Later inconstant troubles can be observed as ophtalmological disorders, growth retardation, hypogonadism, alteration of the immune function, and neuropsychiatric disorders (Braun et al, 1976;Danbolt, 1979;Sehgal and Jain, 2000). Treatment of affected patients by a daily oral zinc supplementation results in a successful and spectacular remission of the clinical signs after several days (Braun et al, 1976;Moynahan, 1974).…”

“…Later inconstant troubles can be observed as ophtalmological disorders, growth retardation, hypogonadism, alteration of the immune function, and neuropsychiatric disorders (Braun et al, 1976;Danbolt, 1979;Sehgal and Jain, 2000). Treatment of affected patients by a daily oral zinc supplementation results in a successful and spectacular remission of the clinical signs after several days (Braun et al, 1976;Moynahan, 1974). Experiments with zinc radioisotopes have shown that AE is caused by a defective zinc uptake in small intestine (Atherton et al, 1979;Weismann et al, 1979), more exactly in duodenum and jejunum.…”

Zinc Binding to MG53 Protein Facilitates Repair of Injury to Cell Membranes

“…Zinc is an essential element for normal physiology (1), and nutritional Zn 2ϩ deficiency and lack of bioavailability are associated with growth failure, dermatitis, impaired immunity, and delayed wound healing (2)(3)(4). One of the examples of impaired wound healing is acrodermatitis enteropathica, caused by reduced Zn 2ϩ uptake in the small intestine and reduced serum Zn 2ϩ levels (2,3,5).…”

Zn2+-stimulated Endocytosis of the mZIP4 Zinc Transporter Regulates Its Location at the Plasma Membrane

“…AE is characterized by symptoms of zinc deficiency (10), such as dermatological lesions, changes in the small bowel mucosa, reduced weight gain, and immune and reproductive dysfunction (11)(12)(13)(14). The primary basis of AE is hypothesized to be the reduced uptake of dietary zinc by intestinal cells (15,16) because patients respond positively to dietary zinc supplements (11,12,17,18).…”