Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation
Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation
复制标题
患有出血性达里尔病的日本家系中 ATP2A2 基因出现复发性 p.N767S 突变，临床上类似于单纯性大疱性表皮松解症并伴有斑点状色素沉着
DOI：
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发表时间：
2007
影响因子：
10.3
通讯作者：
T. Hashimoto
中科院分区：
文献类型：
--
作者：
T. Hamada;S. Yasumoto;T. Karashima;N. Ishii;H. Shimada;Y. Kawano;S. Imayama;J. McGrath;T. Hashimoto
Darier病（DD; MIM 124200）是一种常染色体显性遗传疾病，通常出现在青少年或成人中，在脂溢性区域出现多发性角化性丘疹或斑块，尽管可能存在相当大的临床差异。然而，皮肤活检通常显示表皮的基底上棘层松解，覆盖角化不良细胞，透射电子显微镜显示桥粒附着和角蛋白中间丝的核周聚集体丢失。此外，所有DD病例，无论临床病理表现的性质如何，似乎都是由于ATP 2A 2基因的杂合突变。一个不寻常的临床表现是肢端出血变异，出血DD（HDD），这是很少报告。在这份报告中，我们描述了一个日本家庭与硬盘驱动器。这个家系是感兴趣的，因为在作出临床诊断的困难，也是潜在的ATP 2A 2突变的性质，在这种遗传性皮肤病的基因型-表型相关性的影响。
Darier disease (DD; MIM 124200) is an autosomal dominant disorder that usually presents in teenagers or adults with multiple keratotic papules or plaques in seborrhoeic areas, although considerable clinical diversity may exist. Nevertheless, skin biopsy typically shows suprabasal acantholysis of the epidermis with overlying dyskeratotic cells, and transmission electron microscopy reveals loss of desmosomal attachments and perinuclear aggregates of keratin intermediate filaments. Moreover, all cases of DD, whatever the nature of the clinicopathological manifestations, appear to be due to heterozygous mutations in the ATP2A2 gene. One unusual clinical presentation is the acral haemorrhagic variant, haemorrhagic DD (HDD), which has been rarely reported. In this report, we describe a Japanese family with HDD. This pedigree is of interest because of the difficulties in making a clinical diagnosis and also the nature of the underlying ATP2A2 mutation which has implications for genotype–phenotype correlation in this genodermatosis.
DOI：
10.1073/pnas.93.17.9079
发表时间：
1996-08-20
影响因子：
11.1
作者：
Uttam, J;Hutton, E;Fuchs, E
通讯作者：
Fuchs, E