[Dyskeratosis congenita in a 40-year-old patient].
A 40-year-old patient with a 3-year history of thrombocytopenia was admitted with reticulated and speckled hyper- and hypopigmentations especially on the upper trunk. Aplasia or dystrophy of the fingernails and toenails as well as atresia of the lacrimal ducts were noted. Examination of the oropharynx revealed multiple mucosal leukoplakias and loss of almost all teeth. Based on these observations the diagnosis of X-linked dyskeratosis congenita (Zinsser-Cole-Engman syndrome, OMIM #305000) was made and confirmed by sequencing of the dyskerin 1 (DKC1) gene which revealed a missense mutation in exon 11.
Benoit
S
S
Klinik und Poliklinik für Haut- und Geschlechtskrankheiten, Universität Würzburg.
Kraemer
D
D
Bröcker
E-B
EB
Goebeler
M
M
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics; D041321:Chromosomes, Human, X; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000175:diagnosis* / Q000235:genetics; D005091:Exons; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008715:Methionine / Q000235:genetics; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics; D012729:Sex Chromosome Aberrations; D013921:Thrombocytopenia / Q000209:etiology / Q000235:genetics
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D007532:Isoleucine; D008715:Methionine