‘Double trouble’: diagnostic challenges in genetic skin disorders
‘Double trouble’: diagnostic challenges in genetic skin disorders
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“双重麻烦”：遗传性皮肤病的诊断挑战
DOI：
10.1111/bjd.13159
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发表时间：
2015
影响因子：
10.3
通讯作者：
Bruckner-Tuderman L
中科院分区：
文献类型：
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作者：
Kiritsi D;Valari M;Mileounis K;Bruckner-Tuderman L
亲爱的编辑，编码肿瘤蛋白63的TP 63突变导致了多种罕见的显性遗传综合征，这些综合征代表了一系列孤立的畸形或表皮附件异常和四肢和面部畸形的重叠组合，以及涉及乳腺、耳朵和肾脏等器官的其他特征。1基因型-表型相关性是基于TP 63突变的位置和功能效应，1但已报道同一家族受影响成员之间的表型变异性。[2]此外，一些突变与不止一种综合征有关。3我们报告一个希腊血统的家系，其中的指示病例及其父亲具有ADD-Dermato-Ungual-泪腺-牙齿综合征（acro-dermato-ungual-lacrimal-tooth syndrome; OMIM 103285）的特征。虽然女儿只有轻微的疾病症状，但她的手脚皮肤脆弱，这是在其他情况下受影响更严重的父亲所没有的。这些高度可变的临床特征使诊断复杂化。
DEAR EDITOR, Mutations in TP63, encoding tumour protein 63, result in a variety of rare dominantly inherited syndromes, which represent a spectrum of isolated malformations or overlapping combinations of epidermal appendage anomalies and malformations of the limbs and face, with other features involving organs such as mammary glands, ears and kidney. 1 Genotype–phenotype correlations are based on the location and functional effects of the TP63 mutations, 1 but phenotypic variability between the affected members of the same family has been reported. 2 Moreover, some mutations have been associated with more than one syndrome. 3Here we report on a family of Greek origin, in which the index case and her father had features of ADULT syndrome (acro–dermato–ungual–lacrimal–tooth syndrome; OMIM 103285). Although the daughter had only minor signs of the disease, she suffered from skin fragility of the hands and feet, which was absent in the otherwise more severely affected father. These highly variable clinical features complicated the diagnosis.
DOI：
10.1056/nejmoa1306555
发表时间：
2013-10-17
期刊：
The New England journal of medicine
影响因子：
--
作者：
Yang Y;Muzny DM;Reid JG;Bainbridge MN;Willis A;Ward PA;Braxton A;Beuten J;Xia F;Niu Z;Hardison M;Person R;Bekheirnia MR;Leduc MS;Kirby A;Pham P;Scull J;Wang M;Ding Y;Plon SE;Lupski JR;Beaudet AL;Gibbs RA;Eng CM
通讯作者：
Eng CM
影响因子：
5.2
作者：
Rinne, Tuula;Spadoni, Emanuela;van Bokhoven, Hans
通讯作者：
van Bokhoven, Hans