RESUMO

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.

Assuntos

Cerebelo/anormalidades , Disceratose Congênita/complicações , Retardo do Crescimento Fetal/complicações , Deficiência Intelectual/complicações , Microcefalia/complicações , Pancitopenia/complicações , Proteínas de Ciclo Celular/genética , Pré-Escolar , Disceratose Congênita/genética , Humanos , Masculino , Mutação , Proteínas Nucleares/genética , Síndrome