婴儿颈部皮肤间擦疹型念珠菌病一例

患儿,男,4个月。因颈部红斑、糜烂5d于2010年9月15日就诊。5d前发现其颈部出现红色米粒大小丘疹,并逐渐扩大融合成红斑,表面有乳白色豆腐渣样渗出物。患儿因瘙痒而摩擦哭闹。     

特比萘芬治疗糖尿病伴念珠菌性间擦疹33例疗效观察

目的:探讨口服和外用特比萘芬治疗糖尿病伴念珠菌性间擦疹临床疗效观察,以及口服特比萘芬后对糖尿病患者血糖的影响。方法:选择Ⅱ型糖尿病伴念珠菌性间擦疹患者66例,随机分成A组和B组各33例。A组口服特比萘芬250 mg,每日1次,连服14天;A、B两组同时均外用特比萘芬软膏,每日2次,连用14天后评判疗效。A组患者服药前、停药时查空腹血糖以及餐后2小时血糖并作记录。结果:停药时A组有效率81.8%,B组69.7%;停药4周后有效率A组84.8%,B组69.7%。两组有效率比较差异均无统计学意义。口服特比萘芬前后A组患者血糖变化差异无统计学意义。结论:口服和外用特比萘芬治疗糖尿病伴念珠菌性间擦疹治愈率高,疗效确切,安全性好。     

对称性药物相关性间擦部及屈侧疹一例

48岁男性患者,左腋窝红斑、丘疹伴瘙痒3周.皮肤科情况:双侧腋窝、腹股沟可见对称性分布的粟粒至黄豆粒大小的红斑、丘疹,部分皮损表面可见黄褐色厚腻性鳞屑及浅溃疡,并拢双腿后皮损呈V形分布.肛周可见呈环形分布的米粒至绿豆粒大小的红色丘疹,部分丘疹表面可见黄褐色结痂.皮损组织病理示:角质层可见结痂、角化不全及角化过度,棘层灶...     

Chanarin-Dorfman综合征一例国内首报

【摘要】 目的 检测1例以鱼鳞病伴肝功能异常为主要临床表现的家系基因突变情况,并明确其诊断。方法 收集先证者临床资料,采集先证者及其父母外周血,提取基因组DNA,对先证者进行遗传性皮肤病目标基因外显子测序,确定突变位点,在家系中对突变位点进行Sanger测序验证,并对先证者及其父母外周血涂片等辅助检查结果进行分析。结果 先证者全身皮肤干燥,下肢可见白色细小鳞屑,伴有转氨酶升高、双耳轻度感音神经性耳聋和脂肪肝。先证者外周血基因组DNA中编码CGI-58蛋白的ABHD5基因第6外显子存在纯合突变（c.933dupA）,导致氨基酸序列发生移码突变（p.R312Tfs*45）,其父亲、母亲该位点均为杂合突变,突变与疾病符合共分离。先证者外周血涂片发现中性粒细胞内含脂质空泡,即Jordan小体阳性。结论 先证者表现为鱼鳞病样皮损和肝功能异常,结合其ABHD5基因纯合突变和外周血涂片Jordan小体阳性,诊断为Chanarin-Dorfman综合征。     

Sweet's syndrome with subcutaneous involvement associated with pegfilgrastim treatment: first reported case

Neutrophilic panniculitis is an infrequent entity, considered by most authors as part of the ‘neutrophilic dermatosis’ spectrum. Few cases have been reported to be related with granulocyte colony‐stimulating factor (G‐CSF); we report a case of neutrophilic panniculitis and Sweet's syndrome lesions related with pegfilgrastim, a long‐acting G‐CSF. A 77‐year‐old woman with M2 acute myeloid leukemia was treated with chemotherapy as well as broad‐spectrum antibiotics and antifungal drugs because of febrile neutropenia. Ten days after a single dose of pegfilgrastim, she developed a limited number of purple plaques on the neck, left leg, both arms and several indurated and slightly mobile nodules on her forearms. Skin biopsy of a plaque showed a diffused dermal neutrophilic infiltrate with dermal edema. Biopsy of a nodule showed a lobular neutrophilic panniculitis without vasculitis. No foreign material was found in those biopsies. No organisms were detected in blood, urine or tissue cultures. She was started with prednisolone 40 mg once a day, with dramatic improvement within the next 2 days. This case is noteworthy for the simultaneous appearance of Sweet's syndrome and neutrophilic panniculitis and it is the first case of neutrophilic panniculitis associated with this drug, pegfilgrastim.     

Proteus syndrome: report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome.

This is the first report of a Japanese girl with Proteus syndrome. She presented with growth acceleration and precocious development of the left breast as well as macrodactyly, hemihypertrophy, a subcutaneous preaxillary mass, portwine stains, connective tissue nevi, and a depigmented macule. All these abnormalities were confined to the left side of her body. Although most of the manifestations fit those of Proteus syndrome, the presence of the portwine stains and hemihypertrophy also suggested Klippel-Trenaunay-Weber syndrome. The findings in our patient suggest that the most important characteristic distinguishing Proteus syndrome from Klippel-Trenaunay-Weber syndrome is the presence of functional abnormalities such as a growth spurt and precocious breast development. Proteus syndrome may be genetically different from the Klippel-Trenaunay-Weber syndrome.     

Proliferative lesion of anogenital mammary‐like glands in the setting of Cowden syndrome: case report and review of the literature

Mammary‐like glands are normal appendages of anogenital skin and can give rise to epithelial and stromal tumors that closely resemble breast tumors. Cowden syndrome is an autosomal‐dominant cancer‐predisposition syndrome that is associated with increased risk of various benign and malignant tumors including breast cancers. Here, we report the first case of a proliferative lesion of mammary‐like glands in the setting of Cowden syndrome. A 27‐year‐old female with Cowden syndrome (R130Q‐PTEN mutation) presented with a 1‐cm tender, polypoid perianal lesion. An excisional biopsy revealed a circumscribed, lobulated lesion with fibromyxoid stroma and epithelial hyperplasia with apocrine and columnar cell changes that was arranged in papillary, micropapillary and focal cribriform architecture. The features strikingly resembled proliferative changes commonly seen in the breast. Interestingly, the patient subsequently developed an atypical complex sclerosing lesion of the breast. Given the increased risk of breast neoplasia in Cowden syndrome, and the morphologic relationship between breast glands and mammary‐like glands, this case raises the possibility of an increased risk of neoplasia arising in mammary‐like glands in the setting of Cowden syndrome.     

国内首例慢性播散性副球孢子菌病

报道国内首例慢性播散性副球孢子菌病。患者男, 49岁, 因皮肤丘疹、结节1年, 口腔黏膜丘疹、溃疡2个月入院。皮肤科检查:左足水肿, 左足底多发溃疡, 表面结痂, 左足第3、4趾间及第4、5趾间溃疡, 基底呈颗粒状, 伴点状出血、渗出;左足背、左足内侧及左膝多发丘疹、结节、斑块, 中央溃疡、结痂;左腕部2个丘疹, 上唇左侧1个丘疹, 表面结痂;牙龈、颊黏膜、唇黏膜及上颚可见红色斑块伴溃疡、点状出血, 皮损以左侧为主。浅表淋巴结彩超:双侧颈部及锁骨上窝淋巴结肿大, 左侧为著。胸腹部计算机断层扫描图像示:双肺弥漫粟粒样结节影及条索状、云絮状、结节状高密度影, 左侧肾上腺明显增粗。口腔、左下肢皮损组织真菌免疫荧光染色, 可见酵母细胞。口腔黏膜、左下肢皮损组织病理:肉芽肿性炎, 多核巨细胞内外可见酵母细胞, 折射双膜, 无芽、单芽或多芽;过碘酸希夫染色、六胺银染色阳性。左下肢皮损组织真菌培养:25 ℃、37 ℃沙氏葡萄糖琼脂培养基中培养阳性, 均为菌丝相。口腔黏膜及肺泡灌洗液宏基因组学测序:巴西副球孢子菌。诊断:慢性播散性副球孢子菌病。予伊曲康唑胶囊400 mg/d口服, 1个月后皮肤、黏膜皮...     

Shiitake dermatitis: the first case reported in Brazil

Shiitake Dermatitis is often presented as papules and erythemato-violaceous linear streaks. It can be associated with bleomycin treatment, dermatomyositis and shiitake mushroom (Lentinus edodes). There is not any previous report concerning this rare etiology in our country. Shiitake is the second most consumed mushroom worldwide and it can cause flagellate erythema when ingested raw or half cooked. It has a higher incidence in Oriental countries because of their eating habits, this is the first case reported in Brazil, in a male patient that presented a cutaneous rash after consuming this raw mushroom.