The management of Darier's disease

Darier's disease (keratosis follicularis) is a rare, dominantly inherited condition which is characterised by the presence of warty papules and plaques on the trunk, scalp and flexures. Diagnostic nail changes are present in most patients. Suprabasal clefting, acantholysis and dyskeratosis are present in involved skin and the diagnosis may be confirmed by a skin biopsy. The disease never remits. Exacerbating factors such as heat, sweating and ultraviolet light should be avoided. Topical therapy with emollients, moderately potent corticosteroids and antimicrobials may provide some symptomatic relief, but have no effect on the progress of the disease. Oral retinoids are effective in most patients. Complications such as cutaneous infections, blistering and salivary gland obstruction may occur in some patients.     

Acantholytic pityriasis rubra pilaris associated with topical use of imiquimod 5%: case report and literature review

Topical use of immune response modifiers, such as imiquimod, has increased in dermatology. Although its topical use is well tolerated, it may be associated with exacerbations of generalized cutaneous inflammatory diseases, possibly through the systemic circulation of pro-inflammatory cytokines. This report describes a case of development of pityriasis rubra pilaris, a rare erythematous-papulosquamous dermatosis, in a woman aged 60 years during treatment with imiquimod 5% cream for actinic keratosis. It evolved with erythrodermic conditions and palmoplantar keratoderma, presenting progressive clinical resolution after the introduction of methotrexate. The authors emphasize the importance of recognizing possible systemic reactions associated with the topical use of imiquimod.     

毛囊角化病ATP2A2基因突变二例及家系调查

【摘要】 例1男，16岁，面部、颈部及双腋下见密集褐色毛囊角化性丘疹，部分融合成斑块，局部可见疣状增生；母亲与其有相似的病史及临床表现。例2男，21岁，头面部、颈部、躯干、双腋下及臀部见弥漫性毛囊角化性丘疹，部分融合成片，局部可见疣状增生；家族成员均无类似症状。例2颈部皮损组织病理：表皮角化过度伴灶状角化不全，棘层部分区域棘刺松解并有腔隙形成，可见绒毛、圆体和谷粒细胞，真皮浅层炎症细胞浸润。2例患者及其父母基因检测：例1及母亲ATP2A2基因存在第15外显子c.2300A>G错义突变；例2第15外显子与第15内含子交界处存在c.2097+5G>A 剪切区域突变。2例患者其他家族成员未见上述突变。     

Yellow nails,lymphedema and chronic cough: Yellow nail syndrome in an eight-year-old girl

Yellow nail syndrome is a rare disease and reported mainly in adults. A case of yellow nail syndrome involving an eight-year-old girl with associated discoloured yellowish nails on the fingers and toes, lymphedema and chronic cough, and sputum production is reported.     

脂溢性角化病皮损中环氧合酶-2蛋白的表达及其临床意义

目的 :研究脂溢性角化病皮损中环氧合酶 2 (COX 2蛋白 )蛋白表达及其意义。方法 :应用免疫组化SP法对 30例脂溢性角化病皮损组织及 10例正常皮肤组织中COX 2蛋白进行检测。结果 :30例脂溢性角化病皮损组织中COX 2蛋白表达阳性率为 36 .7% (11/ 30 ) ,而在正常皮肤组织中无COX 2蛋白表达 ;COX 2蛋白的表达在试验组和对照组之间有显著性差异 (P <0 .0 5 ) ;COX 2蛋白的表达与患者年龄、性别、肿瘤组织学类型的相关性均不明显。结论 :COX 2蛋白过度表达与脂溢性角化病的发生密切相关。     

Keratosis palmoplantaris varians of Wachters

We report a case of hereditary palmoplantar keratosis (HPPK) causing a progressive reduction of the prehension capacity of the fingers due to the presence of hyperkeratotic lesions which had appeared approximately 25 years earlier. These lesions, also involving the soles, appeared yellowish in color, linear or round in shape, symmetrical and often confluent, developed prevalently at the pressure points displaying a non-transgrediens pattern. The histological examination, clinical picture and careful analysis of the literature enabled us to define this form as 'keratosis palmoplantaris varians of Wachters'. As a contribution to a conclusive HPPK classification we discuss the differential diagnosis of this disorder most commonly identified through nummular-linear keratoses also known as Siemens' syndrome.     

The immunopathology of regression in benign lichenoid keratosis, keratoacanthoma and halo nevus

BACKGROUNDRegression is a phenomenon present in a variety of cutaneous lesions. It is likely that similar immunologic mechanisms explain the phenomenon of spontaneous regression occurring in the various lesions.METHODSTwenty-seven specimens, nine each of halo nevus, keratoacanthoma, and benign lichenoid keratosis, including three examples each of predominantly early, mid, and late regression were examined with antibodies to HLA-II, CD1a, CD3, CD4, CD8, CD20, CD34, CD56, and CD68.RESULTSEpidermotropism of inflammatory cells, including CD1a positive, CD68 positive, CD3 positive, and CD8 positive cells, was present in benign lichenoid keratosis and keratoacanthoma, but not in halo nevus. In halo nevus, the nests of halo nevus cells tended to be infiltrated by CD1a positive, CD68 positive, CD3 positive, and CD8 positive cells. The blood vessels exhibited endothelial cell swelling with luminal narrowing and disruption within the dermis of all lesions. The CD1a positive cells were increased in number in lesional epidermis except in keratoacanthoma lesions where the density of CD1a positive cells was increased in the epithelial lip, but decreased within the epithelial portion of the keratoacanthoma proper. Conversely, the CD8 positive cells were scarce in the dermis below the epithelial lip of the keratoacanthoma, but increased in the dermis of the neoplastic epithelium. CD1a positive cells were also seen throughout the dermal portion of the lesion, particularly at the lesion base. In halo nevus, the CD1a positive cells and CD68 positive cells within the lesions were larger than those in non-lesional skin, indicating activation. The composition of the inflammatory infiltrate varied within each lesion type according to stage of regression, but T-lymphocytes predominated.CONCLUSIONCytotoxic T-cells may be the final common denominator of regression in benign lichenoid keratosis, keratoacanthoma, and halo nevus. In halo nevus, cytotoxic T-cells may play the predominant role in regression. In keratoacanthoma and benign lichenoid keratosis, cytotoxic T-cells play a pivotal role, but additional mechanisms may also be involved in the phenomenon of regression. Benign lichenoid keratoses progress through stages of regression accompanied by varying proportions of inflammatory cells, including CD3, CD4, and CD8 positive T-lymphocytes, natural killer cells, macrophages and Langerhans cells.     

Keratosis lichenoides chronica. Bath PUVA therapy

We describe the case of a 51-year-old male patient with characteristic lesions of keratosis lichenoides chronica confined to the back of his hands and feet. The lichenoid papules, linear hyperkeratotic ridges and erythematosquamous plaques appeared first in early childhood and recurred after a short episode of spontaneous remission. They didn't respond to various topical treatment modalities over the years. After a local PUVA therapy all lesions disappeared with no recurrence for over two years now. Our case report indicates a new promising indication for bath-PUVA-therapy.     

干细胞特异性标志物Oct-4在表皮肿瘤中表达的临床实验研究

目的探讨表皮非黑素肿瘤中干细胞特异性标志物Oct-4的表达情况以及在表皮肿瘤发生中的作用。方法本研究选择20例人皮肤鳞状细胞癌（scc）、20例基底细胞癌（BCC）、20例脂溢性角化（SK）和20例正常人皮肤组织,采用EnVision免疫组化检测各组组织中干细胞特异性标志物Oct-4和增殖细胞核抗原（PCNA）的表达情况,分析其表达意义。结果（1）Oct-4在皮肤SCC、BCC中表达强度分别为90％（18／20）、80％（16／20）,与正常皮肤组织65％（13／20）和皮肤SK75％（15／20）相比明显增高（P〈0．05）,Oct-4在皮肤SCC和BCC之间的表达比较差异无统计学意义（P〉0．05）。Oct-4在皮肤SK和正常皮肤组织之间的表达比较差异无统计学意义（P〉0．05）。Oct-4在皮肤SK和BCC之间的表达比较差异无统计学意义（P〉0．05）。（2）PCNA在皮肤SCC、BCC中表达强度分别为95％（19／20）、90％（18／20）,与正常皮肤组织75％（12／20）和皮肤SK85％（17／20）比较差异有统计学意义（P〈0．01）;在皮肤SCC和BCC之间的表达比较差异有统计学意义（P〈0．05）;在皮肤SK和正常皮肤组织之间的表达比较差异有统计学意义（P〈0．05）;而PCNA在皮肤SK和BCC的表达比较差异无统计学意义（P〉0．05）。（3）Oct-4在皮肤SCC、BCC中表达强度与细胞周期蛋白PCNA表达阳性强度均呈正相关（-=0．450,0．457,P〈0．05）。结论干细胞特异性标志物Oct-4在BCC和SCC中表达强度明显增高,可能与BCC和SCC发生发展有关。PCNA在BCC和SCC中强阳性表达,可能参与了BCC和SCC增殖过程。Oct-4和PCNA在皮肤SCC、BCC中的阳性表达强度呈正相关性,Oct-4可能通过影响细胞增殖参与了BCC和SCC的发病过程。     

扁平苔藓样角化病临床及皮肤镜特征分析

【摘要】 目的 探讨扁平苔藓样角化病（LPLK）的临床表现及皮肤镜特征。方法 回顾性分析2017年1月至2019年9月在上海市皮肤病医院门诊就诊并行皮肤镜及皮肤组织病理检查确诊的21例扁平苔藓样角化病患者的临床及皮肤镜特征。结果 21例患者年龄（64.69 ± 13.29）岁,男女比例为1∶2。18例皮损位于面部,3例位于小腿。10例皮损呈斑块样型,6例扁平色素斑型,5例扁平红斑样型。7例皮损呈红/紫红色,5例棕红色,8例棕/灰色,1例棕/红色。皮肤镜检查显示,12例为非色素型LPLK,9例为色素型LPLK。色素颗粒见于13例皮损中,且在色素型和非色素型LPLK中的发生率差异无统计学意义（P = 0.07）;色素颗粒多呈弥漫分布（9/13）,且多见于色素型LPLK（8/9）;4例色素颗粒呈局灶分布,均见于非色素型LPLK皮损。10例（10/13）可见色素粗颗粒,其中色素型8例,非色素型2例,色素粗颗粒在两组中分布差异有统计学意义（P = 0.002）。色素特殊分布模式中,环状颗粒模式为8例（8/13）,胡椒粉样色素颗粒模式7例（7/13）,色素型和非色素型LPLK两组间分布差异无统计学意义（P＞0.05）。13例（13/21）可见鳞屑,7例（7/21）血管结构,两种结构在色素型和非色素型LPLK组间发生率差异无统计学意义（P值分别为0.67、0.16）。结论 LPLK好发于面部,可表现为单发的红色、棕红色和棕灰色斑块或斑片,表面可覆鳞屑;特征性皮肤镜特征为出现色素颗粒,以弥漫分布的粗颗粒为主,多见于色素型LPLK。