Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease.
Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease.
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在丘疹性刺刺刺激性症障碍的情况下，体细胞ATP2A2突变：马赛克darier病。
DOI：
10.1111/cup.12551
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发表时间：
2015-11
影响因子：
1.7
通讯作者：
Choate KA
中科院分区：
文献类型：
--
作者：
Knopp EA;Saraceni C;Moss J;McNiff JM;Choate KA
丘疹性棘层松解性角化不良 (PAD)，也称为外阴小腿（或肛门生殖器）区域棘层松解性皮肤病，是一种罕见的皮疹，主要发生在女性中。该实体表现为腹股沟/肛门生殖器区域出现瘙痒性丘疹，胸部较少见。 PAD 的病理学尚不确定。一名 62 岁女性，腹股沟和胸部出现多处疣状病变，组织病理学显示棘层松解性角化不良。鉴于这些 PAD 病变与由于遗传性 ATP2A2 突变而导致的达里尔病 (DD) 的组织学相似性，我们对患者的受影响组织和正常组织以及外周血进行了 ATP2A2 突变筛查。我们在多个独立的 PAD 病变中发现了相同的 ATP2A2 p.706D>N 突变，该突变在未受累皮肤或外周血 DNA 中不存在。这些发现证实 ATP2A2 突变的体细胞嵌合是 PAD 的遗传原因。
Papular acantholytic dyskeratosis (PAD), also known as acantholytic dermatosis of the vulvocrural (or anogenital) area, is an uncommon eruption reported predominantly in women. This entity manifests with pruritic papules in the groin/anogenital area and less commonly on the chest. The pathobiology of PAD is uncertain. A 62-year old woman presented with multiple verrucous-appearing lesions in the groin and on the chest showing acantholytic dyskeratosis on histopathology. Given histological similarity of these PAD lesions to Darier disease (DD) due to inherited ATP2A2 mutation, we screened affected and normal tissue and peripheral blood in our patient for mutations in ATP2A2. We found an identical ATP2A2 p.706D>N mutation in multiple independent PAD lesions that was not present in uninvolved skin or peripheral blood DNA. These findings establish somatic mosaicism of ATP2A2 mutations as a genetic cause for PAD.