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.
Yaghmai
R
R
Institute of Genetic Medicine and the Department of Dermatology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287-4922, USA.
Kimyai-Asadi
A
A
Rostamiani
K
K
Heiss
N S
NS
Poustka
A
A
Eyaid
W
W
Bodurtha
J
J
Nousari
H C
HC
Hamosh
A
A
Metzenberg
A
A
D018797:Cell Cycle Proteins / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000235:genetics; D005317:Fetal Growth Retardation / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008831:Microcephaly / Q000150:complications*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010198:Pancytopenia / Q000150:complications*; D013577:Syndrome
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins