Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.
Yaghmai, Reza MD, PhD; Kimyai-Asadi, Arash MD; Rostamiani, Karoline MS; Heiss, Nina S. PhD; Poustka, Annemarie PhD; Eyaid, Wafaa MD; Bodurtha, Joann MD, MPH; Nousari, Hossein C. MD; Hamosh, Ada MD; Metzenberg, Aida PhD, CGC
[Article] Journal of Pediatrics. 136(3):390-393, March 2000.

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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.

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