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O. Roche, M. Putterman, J. Salomon, F. Lacaille, O. Goulet, N. Brousse, J. Dufier; A New Anatomo–Clinical Entity : Conjunctivo–Intestinal Epithelial Dysplasia . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4966.
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Ocular surface alterations were observed with intractable diarrhea in infancy. Conjunctival biopsies permit to find similar conjunctival alterations with those observed on the intestinal mucous membrane.
Since February 1994 to date, all the children presenting an intractable diarrhea were examined in our ophthalmologic department with a functional evaluation in the search of a photophobia and a keratitis. Conjunctival biopsies, taken either in a fresh state, or fixed start, were systematically realized.
11 patients were included, all originating in the Mediterranean basin. 7 presented functional disorders associated with a surface punctuated keratitis sometimes present in the first months of life. 4 children did not present any anomaly. The histological examination for 6 taking away in a fresh state and 8 fixed start, highlights for 7 of them the epithelial alterations characterized by tufts, associated to a more or less inflammatory chorion. A hyperplasy of the basal cells was observed with beginning of parakeratosis associated to a reduction of the caliciform cells. The intractable diarrhea in infancy is resistant to the usual treatments excluding the prolonged serious diarrheas and the secondary diarrheas with the immunizing deficits. Intestinal and conjunctival biopsies highlighted similar epithelial alterations. To our knowledge, the association of these tufts of conjunctive and of the small intestine was not described in intractable diarrhea in infancy. It could be an anomaly of epithelial differentiation secondary to a deterioration of the basal membranes.
The frequency of the association justifies an early ophthalmologic examination of intractable diarrhea in infancy. Conjunctival biopsies must be realized in order to affirm this diagnosis. A genetic localization gene in question is in hand.
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