聚肌胞治疗儿童及成人扁平疣疗效对比分析

1．1 一般情况 本组病例均系我院门诊病人。儿童组43例，年龄5—14岁，男28例，女15例。病程一周至半年，来诊前均无用药史，皮损在面部38例，合并上肢者5例。成人组51例，年龄19～35岁，男12例，女39例，病程一周至10个月，来诊前有6例病人有过板兰根，病毒唑等不规则治疗，皮损无明显改变，皮损均发在面部。     

匐行性血管瘤2例

报道2例匐行性血管瘤。2例均有典型的临床表现，其中1例皮损泛发，累及躯干和四肢，另1例皮损局限于双侧臀部。1例的组织病理检查符合匐行性血管瘤的改变。经可调的脉冲染料激光治疗后，2例均取得满意的疗效。     

疣状毛癣菌致母女共患体癣分析

母亲上肢出现皮损1年，女儿面部皮损4个月，皮损表现为大小不一的环形红斑，表面覆有鳞屑及少许痂皮，境界清楚，边缘稍隆起。患者家中养牛。两例皮损真菌镜检均可见菌丝，真菌培养均阳性，分离菌株经表型及分子鉴定，两株菌均为疣状毛癣菌，体外药敏试验显示对伊曲康唑及特比萘芬均敏感。 2例患者经口服和外用抗真菌药物联合治疗获痊愈。     

黑发引起过敏反应10例报告

黑发引起过敏反应１０例报告常春华（锦州铁合金厂医院１２１００５）随着美容业的发展，发者日益增加，尤以女性为多。现将笔者诊治的１０例黑发引起的过敏反应报告如下：１０例中女性８例，男性２例。皮损在头部者４例，头面部均有皮损者４例，头部皮损伴全身反应...     

对生物制剂治疗抵抗的银屑病患者皮损部位分析

【摘要】 目的 探讨对生物制剂治疗抵抗的银屑病患者皮损的分布情况。方法 回顾性收集2020年6月至2021年9月中国银屑病规范化诊疗中心数据库中足量、规范化使用生物制剂 ≥ 24周、目前仍在使用生物制剂治疗、入库时银屑病面积和严重程度指数（PASI）评分为1 ~ 5分的73例成人银屑病患者的临床资料，分析对生物制剂治疗抵抗的银屑病患者皮损分布。采用χ2检验比较不同生物制剂使用者皮损残留部位分布的差异，McNemar检验比较患者使用生物制剂治疗前后各部位皮损残留情况，Kruskal-Wallis H检验分析不同皮损残留部位PASI评分与患者皮肤病生活质量指数（DLQI）的关系。结果 73例银屑病患者经 ≥ 24周足量、规范化生物制剂治疗后，顽固性皮损最常累及下肢（46 例，63.01%），其次为头皮（36例，49.32%）、上肢（27例，36.99%）；治疗前后，面颈部、躯干、上肢、下肢、手足等部位残留皮损患者比例显著降低（配对χ2值分别为5.14、7.69、9.90、4.17和6.13，P值分别为0.016、0.003、0.001、0.031和0.008），而头皮、生殖器部位残留皮损的患者比例差异无统计学意义（均P > 0.05）。13例肿瘤坏死因子抑制剂（阿达木单抗、英夫利西单抗及肿瘤坏死因子受体-抗体融合蛋白）与59例白细胞介素17抑制剂（司库奇尤单抗和依奇珠单抗）治疗的皮损残留部位分布差异无统计学意义（均P > 0.05）。13例使用肿瘤坏死因子抑制剂治疗前后，所有皮损残留部位的分布差异均无统计学意义（均P > 0.05）；59例使用白细胞介素17抑制剂治疗后，躯干、上肢和手足等部位残留皮损患者比例显著降低（配对χ2值分别为4.90、9.09和7.11，P值分别为0.021、0.001和0.004），而头皮、面颈部、下肢及生殖器等皮损残留部位的分布差异无统计学意义（均P > 0.05）。73例患者上肢、下肢及总PASI评分与DLQI评分相关（H值分别为7.52、12.61、6.75，均P < 0.05），DLQI评分超过10分者上肢、下肢及总PASI评分均显著高于DLQI低于5分者（均P < 0.05）。结论 对生物制剂治疗抵抗的银屑病皮损主要位于头皮，顽固性皮损最常累及下肢、头皮及上肢；使用两类生物制剂患者的皮损残留分布无显著差别，但相比肿瘤坏死因子抑制剂，白细胞介素17抑制剂可能对更多的部位达到清除效果。     

胰高血糖素瘤综合征2例

本文报告23例罕见的胰高血糖素瘤综合征。2例皮损表皮均类似湿疹，易于误诊，并对本病的临床特点、皮损形态、病理改变和鉴别诊断作了讨论。     

三色白癜风20例临床分析

报告20例三色白癜风，其中男11例、女9例。患者就诊时平均年龄17岁。皮损初发平均年龄为12．8岁。至就诊时平均病程为4.4年。白癜风皮损首发部位以躯干和四肢近端为多(85％)，而三色白癜风皮损除1例位于右小腿外，其余19例均位于躯干(95％)。三色白癜风皮损的临床表现大致可分为4种：①单块皮损与周围正常皮肤形成典型三色性，即皮损中央呈纯白色，周围绕以浅白色中间带，周边是外观正常皮肤；②在正常肤色皮肤上，部分皮损呈纯白色，部分呈浅白色；③在正常肤色皮肤上，纯白色与浅白色皮损混杂、交织存在；④浅白色中间带不是围绕在纯白色皮损周围，而位于纯白色皮损的某一侧边缘。组织病理改变：银染色可见从正常皮肤、浅白色中间带至纯白色皮损，基底层黑素颗粒逐渐减少至完全消失。     

干扰素局部注射联合 CO2激光治疗肛周尖锐湿疣

临床资料：所有病例均来自本科门诊，均具有典型的尖锐湿疣皮损，皮损分布于肛周。其中治疗组 30例，年龄 16～ 50岁；男 24例，女 6例；病程 10天～ 5个月。对照组 28例，男 24例，女 4例；年龄 18～ 54岁。病程 2周～ 6个月。     

三色白癜风20例临床分析

报告20例三色白癜风，其中男11例、女9例。患者就诊时平均年龄17岁。皮损初发年龄平均12．8岁。至就诊时病程平均4．4年。白癜风皮损首发部位以躯干和四肢近端为多(85％)，而三色白癜风皮损除1例位于右小腿外，余19例均位于躯干(95％)。三色白癜风皮损的临床表现大致可分为4种：①单块皮损与周围正常皮肤形成典型三色性，即皮损中央呈纯白色，周围绕以乳白色中间带，周边是外观正常皮肤；②在正常肤色皮肤上，部分皮损呈纯白色，部分呈乳白色；③在正常肤色皮肤上，纯白色与乳白色皮损混杂、交织存在；④乳白色中间带不是围绕在纯白色皮损周围，而位于纯白色皮损的某一侧边缘。组织病理主要改变为：银染色可见从正常皮肤、乳白色中间带至纯白色皮损，基底层黑素颗粒逐渐减少至完全消失。经查阅文献国内尚未见报告。     

Paget病bcl-2蛋白的表达及其意义

我们应用免疫组化技术对Ｐａｇｅｔ病皮损ｂｃｌ ２蛋白表达进行了检测，并对其意义进行了探讨。资料与方法１．病例：共１０例，其中男６例，均为乳房外Ｐａｇｅｔ病，女４例，均为乳房Ｐａｇｅｔ病。所有病例均经ＨＥ及ＰＡＳ染色后确诊。另取４例乳房湿疹皮损及５例正...     

Dyskeratosis Congenita Associated with Elevated Fetal Hemoglobin, X-Linked Ocular Albinism, and Juvenile-Onset Diabetes Mellitus

An 11-year-old boy had dyskeratosis congenita, elevated fetal hemoglobin level, X-linked ocular albinism, and juvenile-onset diabetes mellitus. A review of the international literature revealed that elevated fetal hemoglobin has been noted in 15 reported cases of dyskeratosis congenita. It is a previously unrecognized, commonly associated finding in dyskeratosis congenita that may provide insight into the location and function of the gene for dyskeratosis congenita.     

Intracranial calcifications and dyskeratosis congenita

We describe two brothers with dyskeratosis congenita and intracranial calcifications. The calcifications were massive, approximately symmetric, and showed a predilection for the basal ganglia and dentate nuclei. No underlying causes for this finding were identified. Idiopathic familial intracranial calcification of this type has been described, but an association with dyskeratosis congenita has not previously been observed.     

Dyskeratosis congenita in an adolescent girl with associated choanal atresia

Dyskeratosis congenita is a rare, progressive, degenerative disorder characterized by cutaneous and mucosal involvement in the first decade of life with malignant changes and bone marrow failure in the second and third decades. The primary inheritance pattern is X-linked recessive, with the majority of cases presenting in boys. We report dyskeratosis congenita in an adolescent girl with choanal atresia, a previously unreported association.     

Cytogenetic abnormalities in dyskeratosis congenita—report of five cases

Five patients with dyskeratosis congenita arc described. The cytogenetic studies showed varying frequencies of chromosomal abnormalities which included gaps, chromatid breaks and pulverizations, ranging from 4 to 22%. These findings suggest that chromosomal breakage may be of fundamental importance in the etiology of dyskeratosis congenita and it could represent a genetic marker for the disease.     

Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita

Dyskeratosis congenita (DKC) is a rare and fatal congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancies. Mutations in DKC1 gene encoding dyskerin are responsible for the X-linked dyskeratosis congenita. Here we report mutation analysis of two Chinese pedigrees with dyskeratosis congenita. The 15 coding exons of DKC1 and their flanking regions were amplified from genomic DNA by PCR. DNA sequencing and restriction endonuclease digestion were used for mutation detection. Transition mutation of 1226C-->T (P409L) found in the first pedigree is a novel mutation. In the second pedigree, the proband's mother phenotypically normal carried a de novo transition mutation of 1058C-->T (A353 V) in one allele, and transmitted the mutant allele to her two sons who had typical manifestations of dyskeratosis congenita.     

Hoyeraal–Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype

Hoyeraal–Hreidarsson syndrome is a rare telomere biology disorder that is recognized as a severe variant of dyskeratosis congenita. We present a Libyan boy with hematologic and neurologic abnormalities with typical dermatologic manifestations of dyskeratosis congenita. Death usually occurs before the age of 4 years as a result of pancytopenia or malignant transformation of mucocutaneous lesions. The boy presented survived longer than 5 years. Early recognition and appropriate genetic counseling are crucial because of the high mortality of this genetic disorder.     

Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report

We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder.     

A case of dyskeratosis congenita associated with impaired DNA repair as shown by the comet assay.

An 18-year old boy with dyskeratosis congenita is presented. To examine the DNA metabolism of our patient, we applied the comet assay, a simple, quick and sensitive method that so far has not been used in this disease. After exposure to UVB, cells originating from the patient present abnormal DNA repair localized in the late step. We consider that such repair deficiency could be related to susceptibility to cancer. The comet assay seems to be a good procedure to investigate dyskeratosis congenita or other genodermatoses.     

先天性角化不良的一个新的基因突变

目的 检测一例先天性角化不良(DKC)患者DKC1基因的突变情况。方法 采用PCR技术扩增DKC1基因的15个外显子,然后采用变性高效液相色谱(DHPLC)技术进行基因突变筛查,对筛查结果异常的外显子进行DNA测序:基因突变的验证在100例无相关遗传性疾病的无关男性中进行。结果 患者DKC1基因的第12号外显子呈异常的DHPLC洗脱峰,家庭其他成员及正常群体对照未见此异常洗脱峰。测序结果显示患者DKC1基因第12外显子的1236位碱基由G→T,导致W412C突变,家庭其他成员及正常群体对照均未见此突变。结论 我们检测到的患者DKC1基因W412C是一个新的散发性突变,它可能导致患者先天性角化不良。