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Case Reports
. 2000 Mar;136(3):390-3.
doi: 10.1067/mpd.2000.104295.

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

R Yaghmai  1 , A Kimyai-Asadi, K Rostamiani, N S Heiss, A Poustka, W Eyaid, J Bodurtha, H C Nousari, A Hamosh, A Metzenberg
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Free article
Case Reports

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

R Yaghmai et al. J Pediatr. 2000 Mar.
Free article

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.

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