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Byline: Margaret H. Collins (1), Ulrike Schwarze (2), David F. Carpentieri (1), Paige Kaplan (3), Katherine Nathanson (3), James S. Meyer (4), Peter H. Byers (2) Keywords: Key words: collagen type III, COL3A1 gene, bowel perforation, Ehlers-Danlos syndrome type IV, vessel rupture Abstract: Ehlers-Danlos syndrome (EDS) type IV is a heritable disorder resulting from mutations in the COL3A1 gene that cause deficient production of type III collagen. Clinical manifestations of EDS type IV include hypermobility of small joints, excessive bruisability, thin translucent skin, poor wound healing, bowel rupture, and vascular rupture that is often fatal. A 14-year-old male without a family history of EDS died following multiple bowel and abdominal blood vessel ruptures. Even in areas apart from rupture sites, the bowel wall was thin because of diminished submucosa and muscularis propria. Similarly, the walls of blood vessels in bowel submucosa and elsewhere in the abdomen varied in thickness, and contained frayed and fragmented elastic tissue fibers. Fibroblasts cultured from the patient's skin secreted reduced quantities of type III collagen that was explained by a point mutation in one copy of the COL3A1 gene. EDS type IV should be strongly suspected in any patient with otherwise unexplainable bowel and/or vessel rupture. Author Affiliation: (1) Department of Pathology, Children's Hospital of Philadelphia, 324 S. 34th Street, Philadelphia, PA 19104, USA , US (2) Departments of Pathology and Medicine, PO Box 357470, University of Washington, Seattle, WA 98195, USA , US (3) Department of Pediatrics, Divisions of Metabolism and Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, 324 S. 34th Street, Philadelphia, PA 19104, USA , US (4) Department of Radiology, Children's Hospital of Philadelphia, 324 S. 34th Street, Philadelphia, PA 19104, USA , US

Byline: David F. Carpentieri (1), William Wenner (2), Karen Liquornik (2), Eduardo Ruchelli (1) Keywords: Key words: gastritis, Helicobacter pylori, lymphoid aggregate, lymphoid follicle Abstract: This study was designed to evaluate the significance of gastric lymphoid follicles (LF) and aggregates (LA) in children with and without Helicobacter pylori (HP) infection. All 605 antrum biopsies performed during 1994 were reviewed and classified according to the presence or absence of inflammation, LF, or LA. HP was searched with a DiffQuik stain in all biopsies showing gastritis, LF, or LA. Gastritis was diagnosed in 80 biopsies (16 with LF, 18 with LA and 46 without LA or LF). Identification of HP in these biopsies was as follows: (a) cases with LF: 12/16 (b) cases with LA: 3/18 (c) cases without LF or LA: 8/46. The biopsies without gastritis had a higher frequency of LA (65/525) than of LF (2/525). HP was not identified in any case without gastritis. The presence of LF with histologic gastritis had the strongest correlation with HP (R=0.5, p&lt 0.00001). LF with gastritis had a positive predictive value of 75% for HP and the absence of LF had a negative predictive value of 82.8% (sensitivity 52% specificity 92%). LA with gastritis had no significant correlation with HP. From these results we conclude that lymphoid follicles should be distinguished from lymphoid aggregates. Lymphoid follicles can rarely be present in an otherwise normal gastric mucosa however, they are more frequently found in cases of gastritis and are strongly associated with HP infection. Lymphoid aggregates are not significantly associated with HP infection and may be a component of the normal gastric lymphoid tissue. Author Affiliation: (1) Department of Pathology, The Children's Hospital of Philadelphia, 324 34th Street, Philadelphia, PA 19104-4399, USA , US (2) Department of Gastroenterology, The Children's Hospital of Philadelphia, 324 34th Street, Philadelphia, PA 19104-4399, USA , US Article note: Received March 9, 1999 accepted May 12, 1999.