Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE)

The objectives of this PHRC are:

• the phenotypic analysis of the intestinal epithelial dysplasia by clinical and histo-pathological investigations.
• the identification of proteins involved at the intestinal level in the differentiation, the proliferation and the membership of the epithelial cells
• from the phenotypic study, a genetic analysis of type maps by homozygote on the whole genome partner in an approach guided by possible candidate genes
• the study of the genes, chosen according to their location, to their profile of expression, and to their function in touch with the pathogenic hypotheses

Inclusion criteria

Patient sent in the service of Gastroenterology Pediatric Hepatology of the Hospital Necker Enfants Malades for an intestinal transplantation, from 0 to 15 years old presenting:

• A known epithelial dysplasia (Diagnosis established on the clinical and histo-morphological criteria from one or several intestinal biopsies, with or without diagnosis known or suspected in the family). The objectives are the phenotypic characterization of the case and the revealing of markers characteristic immuno-histochemistry which can be of use to the diagnosis and direct to candidate genes
• Or a suspicion of dysplasia epithelial (compatible clinical History(Story) with or without extra-digestive demonstrations(appearances) of type keratinate punctuated superficial (KPS), abnormalities cutanea or atresia CHOANS with atypical digestive histology and without diagnosis known in the family). The objectives are the diagnosis on the basis of the immuno-histochemistry expression and the existence of an infringement(achievement) conjunctival and the phenotypic characterization of the case
• The lit(enlightened) and written consent of both holders of the parental authority must be beforehand obtained as well as that of the patient if it is in age to understand(include).

Exclusion criteria

• Not membership in a national insurance scheme (beneficiary or legal successor)
• Family not understanding(including) French
• Refusal of one of both relatives(parents)