Congenital dyskeratosis: Zinsser-Cole-Engmann syndrome; a rare cause of aplastic anaemia

Congenital dyskeratosis, also known as Zinsser-Cole-Engmann syndrome is a rare degenerative disease. It is commonly transmitted as an X-linked recessive disorder but autosomal dominant and recessive forms have also been described. In its classical form it is characterised by the triad of abnormal skin pigmentation, nail dystrophy and leukoplakia. It is a rare but important cause of inherited aplastic anaemia.  

DOI: 10.4038/gmj.v14i1.1183

Galle Medical Journal Vol.14(1) 2009 71-72