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.
Department of Paediatrics, Faculty of Medicine, Universiti of Malaya, 50603 Kuala Lumpur. leeai@um.edu.my
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Chong
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Ariffin
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