Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.
case_report · Level V
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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.
Medical subject headings
- Cerebellum
- Dyskeratosis Congenita
- Fetal Growth Retardation
- Intellectual Disability
- Microcephaly
- Pancytopenia