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.
Under ether anesthesia, 30% surface area scalds were administered to young adult rats. Controls were treated similarly except for the scald. The animals were sacrificed at 15 min after injury, and their serum was analyzed for enzyme activities and chemical constituents. Large increases in catalase, glucose 6-phosphate dehydrogenase, lactic dehydrogenase, glutamic-oxalacetic transaminase, and glutamic-pyruvic transaminase activites were noted in postburn serum. No statistically significant change was found in acetylcholinesterase, acid phosphatase, alkaline phosphatase, leucine aminopeptidase, 5'-nucleotidase, or succinic dehydrogenase. Amylase activity was decreased in the burned animals. Serum oxyhemoglobin and inorganic phosphate were elevated, but total protein remained unchanged following trauma. The etiology of the early postburn serum changes is believed to be tissue damage produced by the burn, an important component of which is in vivo hemolysis. A possible relationship between the rapid extracellular buildup of enzymatically active protein and the pathology of burn injury is suggested. Submitted on November 15, 1962
Figure 1. The skin lesions in the perioral, periocular areas, total alopecia with total loss of eyelashes and eyebrows, conjunctivitis, and bilateral cataract. References Figure 2. The skin lesion of the perineal areas.
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