Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal. Request PDF on ResearchGate | Disqueratosis congénita | Este artículo debe citarse como: Nazar-Díaz-Mirón D, Navarrete-Fran-co G. The diagnosis of dyskeratosis congenita was made only after an evolution of five years. The diagnosis of dyskeratosis congenita–although it is a rare disease– should be considered in every child first seen with . Disqueratosis congénita.
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Dyskeratosis congenita – Wikipedia
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July Pages Squamous cell carcinoma of the oral mucosa and pancytopenia in a patient with previously undiagnosed congenital dyskeratosis. Unamuno aME. This item has received. Congenital dyskeratosis, or Zinsser-Cole-Engman syndrome, is characterised by the triad of features: The patient was a year-old man, a shepherd, disqueratossi was diagnosed of congenital dyskeratosis at that age, when consulted for an oral tumor which proved to be a squamous cell carcinoma.
He was also of short stature, suffered from hypotrichosis, premature greying, caries, chromosomal instability and medullary hypoplasia. We comment the high frequency of medullar aplasia or hypoplasia in congenital dyskeratosis, which is sometimes the key of the diagnosis disqueratois is, aside the classic triad of features, another main manifestation for a diagnosis of congenital dyskeratosis.
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Dyskeratosis Congenita – GeneReviews® – NCBI Bookshelf
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