DYSKERATOSIS CONGENITA-TWO SIBLINGS WITH A NEW MISSENSE MUTATION IN THE DKC1 GENE

被引：6

作者：

Coelho, Joana Dias ^{[1
]}

Lestre, Sara ^{[1
]}

Kay, Teresa ^{[2
]}

Paiva Lopes, Maria Joao ^{[1
]}

Fiadeiro, Teresa ^{[1
]}

Apetato, Margarida ^{[1
]}

机构：

[1] Ctr Hosp Lisboa Cent, Dept Dermatol, Lisbon, Portugal

[2] Ctr Hosp Lisboa Cent, Dept Genet, Lisbon, Portugal

来源：

PEDIATRIC DERMATOLOGY | 2011年 / 28卷 / 04期

关键词：

D O I：

10.1111/j.1525-1470.2010.01299.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects.

引用

页码：464 / 466

页数：4

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