PubMed · 8601664
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J C English, M L McCollough. 1996. Transient reactive papulotranslucent acrokeratoderma.. https://doi.org/10.1016/s0190-9622(96)80087-9
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We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.
The rare inherited condition acrodermatitis enteropathica (AE) results from a defect in the absorption of dietary zinc. Recently, we used homozygosity mapping in consanguineous Middle Eastern kindreds to localize the AE gene to an approximately 3.5-cM region on 8q24. In this article, we identify a gene, SLC39A4, located in the candidate region and, in patients with AE, document mutations that likely lead to the disease. The gene encodes a histidine-rich protein, which we refer to as "hZIP4," which is a member of a large family of transmembrane proteins, some of which are known to serve as zinc-uptake proteins. We show that Slc39A4 is abundantly expressed in mouse enterocytes and that the protein resides in the apical membrane of these cells. These findings suggest that the hZIP4 transporter is responsible for intestinal absorption of zinc.
BACKGROUND AND OBJECTIVE: No complete review of the cutaneous manifestations of eating disorders exists. We therefore, set out to review and systematically describe the clinical and histopathologic features of dermatologic conditions associated with anorexia nervosa, bulimia nervosa, and obesity. Differential diagnosis, pathophysiology, laboratory studies, and treatment are also reviewed. METHODS: Index Medicus review (1966 to present) using Ovid-MEDLINE. Search terms included eating disorders, anorexia nervosa, bulimia nervosa, eating disorders not otherwise specified (ED-NOS), and obesity, as well as the terms dermatology skin and cutaneous manifestations, with cross-referencing sources. These were combined with our own clinical experience. All relevant publications, including case reports, case series, cohort studies, and histopathologic studies giving at least Level II-3 evidence (evidence from comparisons between times or places with or without the intervention, including dramatic results in uncontrolled experiments), were selected. CONCLUSION: Forty dermatological signs have been reported in eating disorder patients. Eating disorders have many cutaneous manifestations and cutaneous signs may lead to the diagnosis of an occult eating disorder. The resolution of skin eruptions in eating disorder patients often depends on treatment of the underlying disorder.