Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome☆

Abstract 

X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop. (J Pediatr 2000;136:390-3)

Abbreviations:  DKC , X-linked dyskeratosis congenita, HHS , Hoyeraal-Hreidarsson syndrome, IUGR , Intrauterine growth retardation, MR , Mental retardation