dyskeratosis congenita;
leukoplakia;
nail dystrophy;
pigmentary changes;
bone marrow aplasia;
D O I:
暂无
中图分类号:
R75 [皮肤病学与性病学];
学科分类号:
100206 ;
摘要:
Dyskeratosis congenita is a rare, usually X-linked disorder typically characterized by leucokeratosis of the mucous membranes, nail dystrophy, reticulate hyperpigmentation and progressive bone marrow aplasia. We report a new case of a male patient with characteristic muco-cutaneous changes and bone marrow aplasia. We discuss the pathogenesis of this disease which remains unexplained.
机构:
Washington Univ, Sch Med, Dept Med, Div Hematol, St Louis, MO 63110 USA
Washington Univ, Sch Med, Dept Dev Biol, St Louis, MO 63110 USAWashington Univ, Sch Med, Dept Med, Div Hematol, St Louis, MO 63110 USA
Bessler, Monica
Wilson, David B.
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机构:
Washington Univ, Sch Med, Dept Dev Biol, St Louis, MO 63110 USA
Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USAWashington Univ, Sch Med, Dept Med, Div Hematol, St Louis, MO 63110 USA
Wilson, David B.
Mason, Philip J.
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h-index: 0
机构:
Washington Univ, Sch Med, Dept Med, Div Hematol, St Louis, MO 63110 USA
Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USAWashington Univ, Sch Med, Dept Med, Div Hematol, St Louis, MO 63110 USA
机构:
Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, EnglandBarts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England
Walne, Amanda J.
Dokal, Inderjeet
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h-index: 0
机构:
Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, EnglandBarts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England