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.

• Authors: R Yaghmai, A Kimyai-Asadi, K Rostamiani, N S Heiss, A Poustka, W Eyaid, J Bodurtha, H C Nousari, A Hamosh, A Metzenberg
• Journal: The Journal of pediatrics (J Pediatr) Vol. 136 Issue 3 Pg. 390-3 (Mar 2000) ISSN: 0022-3476 [Print] United States
• PMID: 10700698 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cell Cycle Proteins
• DKC1 protein, human
• Nuclear Proteins

Topics

• Cell Cycle Proteins (genetics)
• Cerebellum (abnormalities)
• Child, Preschool
• Dyskeratosis Congenita (complications, genetics)
• Fetal Growth Retardation (complications)
• Humans
• Intellectual Disability (complications)
• Male
• Microcephaly (complications)
• Mutation
• Nuclear Proteins (genetics)
• Pancytopenia (complications)
• Syndrome