ABSTRACT
Congenital cutis laxa (CCL) is a rare, genetically heterogeneous connective tissue disorder, manifested by loose, hanging skin, giving the appearance of premature aging. We report a 6-year-old female child with autosomal recessive CCL type III, to assess possible correlations between clinical, ultrastructural, cellular and biochemical features. Morphological aberrations of the elastic and collagen tissue, increased collagen I mRNA expression associated with increased protein synthesis and increased collagenase gene expression of the cutis laxa fibroblasts could be established. Our results suggest that CCL is not only a disease of the elastic fibers of the connective tissue but also of the collagen fibers, with a central role of the fibroblast.
Subject(s)
Cutis Laxa/genetics , Cells, Cultured , Child , Collagen/biosynthesis , Collagen/genetics , Collagen/ultrastructure , Collagenases/genetics , Connective Tissue/metabolism , Connective Tissue/pathology , Cutis Laxa/congenital , Cutis Laxa/metabolism , Cutis Laxa/pathology , Elastic Tissue/metabolism , Elastic Tissue/pathology , Female , Fibroblasts/enzymology , Fibroblasts/metabolism , Fibroblasts/pathology , Gene Expression Regulation , Gene Expression Regulation, Enzymologic , Genes, Recessive , Humans , Microscopy, Electron , Protein Biosynthesis , RNA, Messenger/analysis , RNA, Messenger/geneticsABSTRACT
It was the aim of this study to examine by using biopsy material the suitability of polyclonal and monoclonal antibodies against human IgE to support the clinical diagnosis of gastrointestinal allergy by means of morphological methods. A total of 190 gastric biopsies were collected from 56 ambulant patients; 95 specimens were shock-frozen in liquid nitrogen and treated with monoclonal antibodies (D epsilon 1, D epsilon 2); 95 biopsies were fixed in Bouin's solution, embedded in paraffin and treated with a polyclonal antibody. The slide preparations were examined semiquantitatively. The monoclonal (D epsilon 2) and the polyclonal antibody yielded different staining patterns. The polyclonal antibody mainly stained plasmocytes as constituent parts of the inflammatory infiltrate, which was regarded as a secondary phenomenon following the disruption of the mucus barrier. The monoclonal antibody mainly labeled mast cells within the glandular body of the antral and corpus-type mucosa; this finding we regarded as the most important one in the context of allergic reactions. The employment of the two different methods yielded a complete distribution of IgE-containing cells in the gastric mucosa. The immunohistochemical demonstration of IgE is therefore a useful method to support the clinical diagnosis of allergic processes in the gastrointestinal mucosa.