Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.

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.

[1]  A. Poustka,et al.  X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. , 1999, American journal of human genetics.

[2]  S. Klauck,et al.  X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions , 1998, Nature Genetics.

[3]  F. Locatelli,et al.  The Hoyeraal-Hreidarsson syndrome: the presentation of the seventh case. , 1997, European journal of pediatrics.

[4]  S. Ohga,et al.  What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome? , 1997, European journal of pediatrics.

[5]  S. Ohga,et al.  Severe aplastic anemia in a patient with primary immunodeficiency , 1994, Acta paediatrica Japonica : Overseas edition.

[6]  L. Al-Gazali,et al.  Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? , 1992, Journal of medical genetics.

[7]  G. Pai,et al.  Etiologic heterogeneity in dyskeratosis congenita. , 1989, American journal of medical genetics.

[8]  K. Kristjánsson,et al.  A Syndrome of Progressive Pancytopenia with Microcephaly, Cerebellar Hypoplasia and Growth Failure , 1988, Acta paediatrica Scandinavica.

[9]  G. Ogden,et al.  Dyskeratosis congenita: report of a case and review of the literature. , 1988, Oral surgery, oral medicine, and oral pathology.

[10]  J. Lamvik,et al.  CONGENITAL HYPOPLASTIC THROMBOCYTOPENIA AND CEREBRAL MALFORMATIONS IN TWO BROTHERS , 1970, Acta paediatrica Scandinavica.