Uche-Holub E, Ritter M, Helbig D, Stege H, Frank J
Hautklinik, Medizinische Fakultät der Heinrich Heine Universität Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
Hautarzt. 2012 Oct;63(10):759-62. doi: 10.1007/s00105-012-2441-9.
A 45-year old man presented with red-brown hyperkeratotic papules that were distributed in an unilateral segmental fashion on the right thorax. Histopathological examination revealed acanthosis and, in particular, acantholysis and dyskeratosis in the basal and suprabasal epidermal layers. Based on the clinical and histopathologic findings we diagnosed a type 1 segmental Darier disease. Darier disease is an autosomal dominant disorder that is caused by mutations in the ATP2A2 gene and is characterized by dysfunctional adhesion between neighboring keratinocytes. The type 1 segmental manifestation reflects a de novo postzygotic somatic mutation in the heterozygous state and as a rule can be found in all autosomal dominantly inherited genodermatoses.
一名45岁男性患者，其右侧胸部出现呈单侧节段性分布的红棕色角化过度丘疹。组织病理学检查显示棘层肥厚，尤其是基底层和基底层上表皮层出现棘层松解和角化不良。根据临床和组织病理学检查结果，我们诊断为1型节段性达里埃病。达里埃病是一种常染色体显性疾病，由ATP2A2基因突变引起，其特征是相邻角质形成细胞之间的黏附功能障碍。1型节段性表现反映了杂合状态下的新生合子后体细胞突变，通常在所有常染色体显性遗传的遗传性皮肤病中都能发现。
