A rare X-linked inherited mucocutaneous syndrome in two siblings.
We report on an 11 year-old boy with dyskeratosis congenita who presented with dystrophic nails, dysphagia, hyperpigmentation and oral leukoplakia. He had a brother who died 14 years earlier with similar presenting symptoms and aplastic anaemia. Genetic studies of our patient demonstrated the presence of a DKC1 mutation and confirmed our diagnosis. Further genetic screening revealed that his mother and one of his four sisters are heterozygous for the same mutation.
Chong
L A
LA
Department of Paediatrics, Faculty of Medicine, Universiti of Malaya, 50603 Kuala Lumpur. leeai@um.edu.my
Ariffin
H
H
D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D019871:Dyskeratosis Congenita / Q000235:genetics*; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D035583:Rare Diseases / Q000235:genetics*; D035781:Siblings; D013577:Syndrome
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins