PMID: 6539499May 1, 1984Paper

Dyskeratosis congenita. Haematologic, cytogenetic, and dermatologic studies

Scandinavian Journal of Haematology
P JacobsM Nelson

Abstract

In a family of 5 boys and 6 girls, 3 brothers have clinical dyskeratosis congenita. Teeth from 2 of the patients were taurodent , and mineral density of the enamel was significantly different from normal. The haematopoietic marrow was hypocellular and there was striking prominence of plasma cells having normal morphology; no granulomata were demonstrated. The decreased erythroid precursors in the marrow correlated with quantitatively reduced erythropoiesis demonstrated on ferrokinetic studies. Recurrent infections occurred but could not be related to neutropenia, and granulocytes and monocytes retained normal function. No abnormality was demonstrated in humoral or cellular immune mechanisms. While superficially similar, dyskeratosis congenita and Fanconi's anaemia are genetically distinct, being X-linked in the former and inherited as an autosomal recessive in the latter.

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Citations

Aug 22, 2006·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·T P B Handley, G R Ogden
Jan 26, 2010·International Journal of Dental Hygiene·I BaranM Kocak
Aug 3, 2016·Disease Models & Mechanisms·Madalena C CarneiroMiguel Godinho Ferreira
Sep 20, 2005·Pediatric Hematology and Oncology·Aydan AçikgözDavut Albayrak
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