22例Darier病的临床病理学研究(pdf)

    【摘要】 目的 探讨广东地区Darier病的临床表现和组织病理学特征。方法 本研究是回顾性研究，于2001年10月～2006年7月期间来自中山大学附属第一医院皮肤科门诊共22例DD患者。电话通知患者到诊见面随访，并完成一个调查问卷，包括人口统计学、临床和病理资料。结果 22例患者中有女10例，男12例，男女比例基本相当。平均发病年龄16岁。其中15例有家族遗传史。主要的症状是瘙痒。多在皮脂溢出部位和屈侧皮肤可见油腻性角化性丘疹，且全部病例肢端受累，36.36%患者口腔有皮损。最常见部位依次为面部、耳部和耳后、颈部。局限性棘层松解性角化不良及其产生的圆体和谷粒是最常见的组织病理学改变。结论 Darier病是一种少见的常染色体显性遗传性皮肤病。常在皮脂溢出部位和屈侧皮肤见油腻性丘疹和斑块。棘层松解和角化不良是典型的病理改变。

    【关键词】 Darier病；毛囊角化病；临床病理学；遗传的

    A clinico-pathological study on 22 cases of Darier’s disease

    WU Liang-cai，LU Nian-zu，LUO Di-qing，et al.Department of Dermatology，Huangpu Division of the First Affiliated Hospital of Sun Yat-sen University，Huangpu District，Guangzhou 510700，China

    【Abstract】 Objective To study the clinico-pathological features of patients with Darier’s disease in Guangdong Province. Methods This is a retrospective study and all the 22 patients with DD are from dermatology clinic of the first affiliated hospital of Sun Yat-Sen University from October 2001 till July 2006. All the patients are called to attend the clinic to be interviewed and complete a questionnaire which comprise the demographic , clinical and pathological data.Results There are 22 affected patients (10 males and 12 females with approximately equal sex ratio) and the mean age of onset was 16 years old.Fifteen patients had positive family history. The major symptom experienced was itching. Keratotic papules were invariably present in our patients and mixed pattern with seborrheic plus flexural involvement was the commonest phenotypic variation. All of them had acral signs; 36.36% patients had oral mucosal lesions. Lesions were most frequently found on face, ears and back of ears,neck. Focal acantholytic dyskeratosis with corps rounds and grains were the usual histopathological findings.Conclusion Darier’s disease is a rare dermatosis with an autosomal dominant mode of inheritance. Greasy papules and plaques arise on the seborrheic areas and in the flexures. Acantholysis and dyskeratosis are the typical histological findings. ......