患者,男,65岁.手部皮色丘疹结节伴关节痛3月余,组织病理示:真皮可见大量组织细胞和多核巨细胞,胞体大,胞浆丰富,部分胞浆红染,呈"毛玻璃"样.PAS染色阳性,免疫组化Vimentin(+),CD68(+),CD1a(-),S100(-).诊断:多中心网状组织细胞增生症.经"泼尼松、甲氨蝶呤、雷公藤"联合口服治疗后皮疹和关节症状明显改善.

OBJECTIVE:To detect mutation of adenosine deaminase acting on RNA1 (ADAR1) gene in a pedigree affected with dyschromatosis symmetrical hereditaria (DSH).METHODS:Clinical data and peripheral blood samples of the patients from the pedigree were collected. Potential mutations of the ADAR1 gene were screened among 2 patients, 2 unaffected individual from the pedigree as well as 50 unrelated healthy controls by PCR amplification and direct sequencing.RESULTS:A c.3463C>T (p.R1155W) missense mutation of the ADAR gene was identified in the 2 patients, which was absent in the 2 healthy relatives and 50 unrelated controls. The mutation has been previously identified among 5 Chinese families and was the most common mutation site.CONCLUSION:The c.3463C>T missense mutation of the ADAR gene probably underlies the disease in this pedigree.

Vol. 29, No. 5, 2017 633 Received October 2, 2013, Revised February 22, 2014, Accepted for publication March 1, 2014 Corresponding author: Cheng-rang Li, Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, NO.12, Jiang-wang-miao road, Nanjing 210042, Jiangsu Province, China. Tel: 86-13645153971, Fax: 86-025-85478071, E-mail: nylcr72@163.com This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons. org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology pISSN 1013-9087ᆞeISSN 2005-3894 Ann Dermatol Vol. 29, No. 5, 2017 https://doi.org/10.5021/ad.2017.29.5.633

Objective To analyze the clinical characteristics and treatment of acne inversa.Methods Seventeen outpatients with acne inversa were collected in the Institute of Dermatology,Chinese Academy of Medical Sciences and Peking Union Medical College from January l,2012 to December 31,2012.The general condition,clinical feature and treatment of these patients were retrospectively analyzed.Results All the patients were male with the age at onset being about 20 years and disease duration varying from 2 to 50 years.Characteristic clinical manifestations were recurrent tender inflammatory papules,nodules,abscesses,fistulae and sinus tracts in the neck,axillary fossa,groin,perineum and buttocks.Among these patients,10 had a family history and seven were sporadic with mild symptoms.Oral tretinoin combined with antibiotics were the main treatment,and surgical treatment was usually used for severe patients.Conclusions Acne inversa is mainly manifested as abscess,sinus and scars in areas bearing apocrine sweat glands,and therapeutic regimen should be selected according to the severity of lesions.

报告1例反常性痤疮.患者男,23岁.因全身反复丘疹、脓疱、结节及囊肿5年就诊.根据临床表现及明确的家族史,符合家族性反常性痤疮(AI)的诊断.AI又名化脓性汗腺炎,任何年龄均可发病,临床表现为腋窝、腹股沟、肛周及会阴部等褶皱部位出现疼痛性皮下结节和囊肿,并伴有溃疡、窦道和瘢痕的形成,皮损疼痛、异味明显,给患者带来很大的痛苦.该例患者经过外科手术治疗——脓肿切开引流术后,取得较好疗效.

目的 分析散发性多发性毛发上皮瘤的临床特点,检测散发性多发性毛发上皮瘤的致病基因,并回顾性分析国内外毛发上皮瘤的文献.方法 采集患者的外周血,应用外周血细胞DNA提取、PCR扩增和DNA直接测序等方法分别检测CYLD基因突变情况.结果 病理检查示:真皮中上层多个基底样瘤细胞团,瘤团区域见数个角囊肿,瘤基质中未见明显的收缩间隙,符合毛发上皮瘤的诊断.本实验中未检测到CYLD基因的突变位点.结论 毛发上皮瘤患者,尤其是散发病例的CYLD基因突变率低,毛发上皮瘤的致病基因可能存在其他的基因突变位点,其次可能存在遗传异质性.

A 9-year-old boy was admitted to the hospital for recurrent papules,pustules,crust and necrosis all over the body for 8 years.A diagnosis of lymphomatoid papulosis type C was made according to histopathological and immunohistochemical findings.Lymphomatoid papulosis,as a kind of self-healing primary cutaneous CD30+ lymphoproliferative disorder,can be histopathologically divided into 3 types,i.e.,A,B and C,and little is known about its pathogenesis.Lymphomatoid papulosis is often misdiagnosed as pityriasis lichenoides et varioliformis acuta.Lymphomatoid papulosis type C should be pathologically differentiated from primary cutaneous CD30+ anaplastic large cell lymphoma.

黄瘤病是一种临床上较常见的脂质代谢障碍性皮肤病,其亚型发疹性黄瘤病不多见,发生于面部的国内仅偶见报道[1],笔者诊治1例以面部丘疹为主要表现的发疹性黄瘤病,因长期误诊,为引起重视,现报告如下. 1 病历摘要 患者女,40岁.因面部丘疹渐增多5年,于2011年4月12日来我院就诊.患者5年前无明显诱因于口周出现淡黄色或淡红色针头至米粒大丘疹,缓慢增多,逐渐累及面颊部、眼睑、额部,偶有轻微瘙痒,无其他明显不适.自用肤轻松软膏短期外用,皮损无变化,后未继续治疗.2年前皮损渐增多增大,蔓延至颈前、双腋窝、双侧腘窝及腹股沟等皮肤皱襞处,多数初起为暗红色丘疹,后变为蜡黄色丘疹,无明显自觉症状.

Alopecia areata is a kind of common benign non-scarring hair loss severely affecting patient's appearance.Traditional therapies include topical or systemic corticosteroids as well as drugs promoting hair growth such as minoxidil.With new insights into the pathogenesis of alopecia areata,some novel treatment modalities,such as immunomodulators,biologics,308-excimer laser,photochemotherapy with psoralens and ultraviolet A (PUVA),and so on,have been gradually introduced into the treatment of alopecia areata.The clinical application of these new modalities is limited because of their side effects and the lack of evidences from large-scale randomized controlled trials,however,they have provided a useful clue for the treatment of alopecia areata.To target the pathogenesis and minimize adverse effects will be the focus of future research in alopecia areata treatment.