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Dyskeratosis congenita: a literature review
Author(s) -
AlSabbagh Manahel Mahmood
Publication year - 2020
Publication title -
jddg: journal der deutschen dermatologischen gesellschaft
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.463
H-Index - 60
eISSN - 1610-0387
pISSN - 1610-0379
DOI - 10.1111/ddg.14268
Subject(s) - dyskeratosis congenita , bone marrow failure , dermatology , leukoplakia , medicine , hyperkeratosis , disease , hyperpigmentation , malignancy , pathology , genetics , biology , gene , cancer , telomere , haematopoiesis , stem cell
Summary Dyskeratosis congenita is a rare hereditary disease that occurs predominantly in males and manifests clinically as the classic triad of reticulate hyperpigmentation, nail dystrophy and leukoplakia. It increases the risk of malignancy and other potentially lethal complications such as bone marrow failure, lung and liver diseases. Mutations in 19 genes are associated with dyskeratosis congenita, and a fifth of the pathogenic mutations are found in DKC1 , the gene coding for dyskerin. This review aims to address the clinical and genetic aspects of the disease.