Dyskeratosis congenita in two ethiopian brothers.

DYSKERATOSIS CONGENITA IN TWO ETHIOPIAN BROTHERS. Ethiop Med J. 2015 Oct;53(4):215-21 Authors: Gebremedhin A, Bekele A Abstract Dyskeratosis congenita (DKC) is a rare, progressive bone marrow failure syndrome that is characterized by the triad of reticulated skin pigmentation, nail dystrophy and oral leukoplakia. Current evidence indicates that DKC is a disease of defective telomere maintenance, ribosome deficiency and protein synthesis dysfunction. Mortality is often associated with bone marrow failure (BMF), development of malignancy and other multisystem complications of the disease. Here we report two Ethiopian brothers with classical signs and symptoms of DKC. The characteristic clinical features, laboratory findings, and clinical course of the two brothers are discussed along with relevant literature review. PMID: 27182588 [PubMed - in process]
Source: Ethiopian Medical Journal - Category: African Health Tags: Ethiop Med J Source Type: research

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