Lymphonodular hyperplasia on the mucosa of the lower gastrointestinal tract in children: an indication of enhanced immune response?
We consider LNH on the mucosa of the colon or TI common but not an innocent bystander. Significantly related to a diagnosis of gastrointestinal FA in this study, it is an expression of mucosal immune response. If detected on the colon, FA should be considered, whereas if present in TI, it may be related to FA but also to a variety of other immunologically active disease states.
This paper has demonstrated for the first time that identical COL7A1 glycine substitutions can cause remarkably heterogeneous clinical phenotypes extending from simple toe nail dystrophy without skin fragility to typical DDEB and EB pruriginosa. In addition, the fact of inter-familiar, not intra-familiar clinical heterogeneity associated with G2028R suggest that the other molecular mechanisms not controlled by COL7A1 coding sequence might be responsible for the clinical heterogeneity.