Pathophysiology and mode of transmission

In infants with epithelial dysplasia with characteristic tufts, we have reported abnormal laminin and heparan sulfate proteoglycan deposition on the basement membrane, compared to biopsy specimens from patients with celiac disease or autoimmune enteropathy.11 Basement membrane molecules are involved in epithelial-mesenchy-mal cell interactions, which are instrumental in intestinal development and differentiation.46-49 Alterations suggestive of abnormal cell-cell and cell-matrix interactions were seen in patients with epithelial dysplasia without any evidence of abnormalities in epithelial cell polarization and proliferation.37 Alterations included abnormal distribution of adhesion molecules a2p1 integrin along the crypt-villus axis. The a2p1 integrin is involved in the interaction of epithelial cells to various basement membrane components, such as laminin and collagen. To date, the pathophysio-logical mechanisms resulting in an increased immunohistochemical expression of desmoglein, and the ultrastructural changes of desmosomes remain unclear (Figure 1.7).37 Tufts correspond to non-apoptotic epithelial cells at the villous tips that are no longer in contact with the basement membrane. It can be speculated that a defect of normal enterocyte apoptosis at the end of their lifespan, or an altered cell-cell contact, is responsible for this effect. The primary or secondary nature of the formation of tufts remains, however, to be determined.

To date, the genetic origin of this disorder is suspected from the clear association of parental consanguinity and/or affected siblings. These features suggest an autosomal recessive transmission. The gene involved in this congenital inherited autosomal recessive disease is not yet identified. This enteropathy appears more common than MVID, especially within the Middle-Eastern population.

Other diseases of the intestinal epithelium 9

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