继发皮肤鳞状细胞癌的IL-36Ra缺陷病一家系报告

目的报告一个先证者继发皮肤鳞状细胞癌的IL-36Ra缺陷病(DITRA)家系。方法收集该家系的临床资料和外周血标本,PCR方法扩增IL36RN全部外显子及其侧翼序列并测序。结果先证者小腿溃疡处组织病理示:溃疡形成,真皮内上皮条索呈浸润性生长,细胞异型;基因检测示:IL36RN c.115+6TC纯合突变。同期检测了家系中未发病者以及178例健康对照者,发现家系中未发病者及8例健康者中发生了IL36RN c.115+6TC杂合突变。结论 IL36RN c.115+6TC纯合突变可能为该先证者DITRA的发病原因;先证者继发皮肤鳞状细胞癌可能与其溃疡病变长期不愈有关。     

107例泛发性脓疱型银屑病IL36RN基因突变检测及基因型-临床表型相关性分析

目的：研究IL36RN基因突变与中国汉族泛发性脓疱型银屑病（Generalized Pustular Psoriasis, GPP）的相关性,分析IL36RN基因型与GPP临床表型的关联性。方法：提取107例GPP患者的外周血DNA,进行IL36RN基因所有外显子测序,分析比较携带或不携带IL36RN基因突变以及携带隐性或杂合突变GPP患者的临床表型。结果：45例患者中检测到IL36RN基因的9个突变点（3个为新发突变点）;其中25例为携带隐性突变（纯合突变和复合杂合突变）,20例携带杂合突变;分析基因型与表型之间的关系发现,IL36RN基因突变与GPP的发病年龄、合并寻常型银屑病症状的概率、疾病反复发作的概率相关,而IL36RN基因隐性突变型与疾病反复发作的概率、疾病合并系统性炎症的概率相关。结论：IL36RN基因突变不仅与GPP的发病相关,而且与GPP的临床表型有一定相关性。     

无寻常性银屑病的疱疹样脓疱病、泛发性脓疱型银屑病1例及其家系IL-36RN基因的突变检测

目的检测1例无寻常性银屑病的中国汉族女性疱疹样脓疱病、泛发性脓疱型银屑病患者及其家系的IL-36RN基因突变情况。方法 1例42岁无寻常性银屑病病史的泛发性脓疱型银屑病女性患者,16年前曾患疱疹样脓疱病住院治疗。其父亲患寻常性银屑病30年。采集该家系6名成员和13名健康对照的血样,提取基因组DNA,PCR扩增IL-36RN基因的全部外显子编码区及其侧翼序列,并直接测序。结果泛发性脓疱型银屑病患者IL-36RN基因c.115+6TC位点检测到纯合突变,其父亲、母亲、女儿IL-36RN基因c.115+6TC位点均检测到杂合突变,健康对照、其弟弟和丈夫的相同基因位点未检测到突变。结论 IL-36RN基因c.115+6TC位点的纯合突变可能是该例泛发性脓疱型银屑病和疱疹样脓疱病的共同发病基础。本研究为国内首次报告的疱疹样脓疱病患者中检测到IL-36RN基因c.115+6TC位点纯合突变,进一步支持疱疹样脓疱病与不伴寻常性银屑病的泛发性脓疱型银屑病是由IL-36RN基因突变所致的相同疾病。     

IL36RN基因突变与寻常型银屑病及脓疱型银屑病的相关性分析

目的:研究IL36RN基因突变与寻常型银屑病及脓疱型银屑病的相关性。方法:采用PCR扩增IL36RN基因所有外显子及其侧翼序列并进行Sanger测序,比较寻常型银屑病组(PV,34例)、泛发性脓疱型银屑病组(GPP,26例)与健康对照组(66例)各组之间基因突变率。结果:测序共发现5个IL36RN突变位点,其中c.115+6T>C为最常见的突变位点。IL36RN总的基因突变率在PV组、GPP组及健康对照组的突变率分别为5.9%、57.6%、7.6%。GPP组与PV组总突变率比较,差异有统计学意义(P<0.01),与健康对照组总突变率比较,差异亦有统计学意义(P<0.01),但PV组与健康对照组总突变率无明显差异(P>0.05)。c.115+6T>C的突变率在GPP组和PV组亦有明显差异(P<0.01)。结论:GPP和PV可能是两组具有遗传异质性的疾病。IL36RN可能为GPP发病的易感基因,其可能可作为脓疱型银屑病发病的潜在基因靶点。     

一例红皮病患儿白细胞介素36RN突变分析

患儿男,2岁,出生2个月后全身反复出现弥漫性脱屑性红色斑疹,无脓疱、溃烂,伴有反复发热,热峰39.3 ℃,诊断为红皮病。全基因组测序分析显示,该患儿白细胞介素36RN发生c.28C>T和c.368C>T复合杂合突变, 其中,c.28C>T遗传自其父亲,引起p.Arg10X改变, 导致氨基酸转录终止提前出现;c.368C>T遗传自其母亲,引起p.Thr123 Met改变。患儿白细胞介素1RN基因未发生突变。白细胞介素36RN c.28C>T和c.368C>T复合杂合突变可能是该例患儿发生红皮病的原因。     

IL36RN基因突变与掌跖脓疱病的相关性研究

目的：明确IL36RN基因突变与掌跖脓疱病的相关性。方法：提取96例掌跖脓疱病患者(PPP)与144名健康对照外周血DNA,采用聚合酶链反应(PCR)技术扩增 IL36RN 基因所有外显子及其侧翼序列并进行Sanger测序。结果：96例PPP患者中有3例患者携带c.115+6T>C(p.Arg10ArgX1),3例携带c.140A>G (p.Asn47Ser)。144名对照者中有2名携带c.115+6T>C,4名携带c.140A>G。PPP组与健康对照组IL36RN突变率比较,差异无统计学意义(P=0.67,OR=0.65,95% CI: 0.20~2.09)。结论：PPP与IL36RN基因突变不相关。     

Hutchinson-Gilford早老综合征

报告1例Hutchinson-Gilford早老综合征(HGPS).对1例患儿及其父母外周血LMNA基因11号外显子和侧翼序列进行测序.患者男,5岁,全身皮肤呈硬皮病样改变,生长迟滞,特殊面容,毛发稀少.髋、膝关节均不能完全伸直,呈“骑马样站姿”.患儿LMNA基因11号外显子c.1824C＞T杂合点突变,父母均未检测到该位点突变.文中还通过回顾性分析,探讨中国人群中通过基因学诊断的18例病例的疾病特点.我国基因学诊断的18例HGPS中,9例经典型HGPS均为散发病例,基因表型均上出现c.1824C＞T杂合突变.患儿均在1岁以内发病,出生时基本未表现出“异常”.患儿男女性别比例为2∶1,以男孩受累明显;非经典型患儿基本在家族内发病,男女受累情况类似,3个家庭中均发现c.1579C＞T纯合突变.     

Sjogren-Larsson综合征ALDH3A2基因突变研究

目的 检测2例以先天性鱼鳞病、智力发育迟缓及痉挛性截瘫为主要表现的Sj?觟gren-Larsson综合征患者的ALDH3A2基因突变情况。 方法　2例分别为2岁女性及1.5岁男性儿童,家族中均无类似疾病。提取2例患者及其6例相关亲属（每例患儿的父母及哥哥）外周血DNA,采用PCR扩增ALDH3A2基因编码区的全部外显子及其侧翼序列并测序。同时随机抽取100例无关健康人外周血基因组DNA作对照。结果基因检测发现,例1的ALDH3A2基因发生c.325G>A纯合突变,导致氨基酸出现p. Gly109Arg改变,其父母及其未受累的兄长为该突变的杂合携带者。例2的ALDH3A2基因发生c.1157A>G及c.1294A>T复合杂合突变,导致氨基酸出现p. Asn386Ser及p.Arg432X改变,突变分别来自父母。100例健康对照者均未见相同突变。结论 在2例Sj?觟gren-Larsson综合征患者中检测到ALDH3A2基因的p. Gly109Arg纯合突变及p. Asn386Ser与p. Arg432X复合杂合突变,该基因突变可能与患者临床表型相关。 【关键词】 Sjogren-Larsson综合征; 鱼鳞病; 突变; ALDH3A2     

SERPINB7基因纯合突变的长岛型掌跖角化症一例

15岁男性患者,双手足出生即出现弥漫性红斑伴角化,家族中无类似病史,父母非近亲结婚.全外显子测序:SERPINB7基因c.522-523insT(p.Val175Cysfs*46)纯合突变,先证者父母为杂合突变.诊断:长岛型掌跖角化症.     

长岛型掌跖角化病:一例纯合缺失的SERPINB7基因突变

目的报道1例长岛型掌跖角化病,确定其致病基因突变。方法在先证者家系调查的基础上,收集家系患者和正常人的血样,并采集正常对照血样100份,采取聚合酶链反应技术对长岛型掌跖角化病致病基因SERPINB7基因进行扩增,并对其产物进行测序。结果先证者存在SERPINB7基因7号外显子的c.650-653delCTGT(p.S217Lfs*7)纯合突变。先证者父母为杂合缺失。结论 SERPINB7基因的c.650-653delCTGT(p.S217Lfs*7)纯合突变是引起患者长岛型掌跖角化病的原因,这是该疾病、该位点作为纯和突变的首次报道。     

New fillers for the new man

ABSTRACT:  Two new collagen-based lidocaine-containing dermal fillers, ArteSense™/ArteFill™ (Artes Medical, San Diego, CA) and Evolence® (Colbar LifeScience Ltd., Herzliya, Israel), have proved to be of particular interest to men, many of whom seek a long-lasting or permanent correction. ArteFill™ has been available in the United States since 2006, and it is expected that Evolence® will reach the American market in 2008. The properties of the two products will be described, and experience based on the administration of many hundreds of syringes of both products by a Canadian dermatologist will be detailed here, with tips and precautions to optimize patient outcomes.     

Outcomes and adverse effects of ablative vs nonablative lasers for skin resurfacing: A systematic review of 1093 patients

It is generally believed that ablative laser therapies result in prolonged healing and greater adverse events when compared with nonablative lasers for skin resurfacing. To evaluate the efficacy of ablative laser use for skin resurfacing and adverse events as a consequence of treatment in comparison to other modalities, a PRISMA‐compliant systematic review (Systematic Review Registration Number: 204016) of twelve electronic databases was conducted for the terms “ablative laser” and “skin resurfacing” from March 2002 until July 2020. Studies included meta‐analyses, randomized control trials, cohort studies, and case reports to facilitate evaluation of the data. All articles were evaluated for bias. The search strategy produced 34 studies. Of 1093 patients included in the studies of interest, adverse events were reported in a total of 106 patients (9.7%). Higher rates of adverse events were described in nonablative therapies (12.2% ± 2.19%, 31 events) when compared with ablative therapy (8.28% ± 2.46%, 81 events). 147 patients (13.4%) reported no side effects, 68 (6.22%) reported expected, transient self‐resolving events, and five (0.046%) presented with hypertrophic scarring. Excluding transient events, ablative lasers had fewer complications overall when compared with nonablative lasers (2.56% ± 2.19% vs 7.48% ± 3.29%). This systematic review suggests ablative laser use for skin resurfacing is a safe and effective modality to treat a range of pathologies from photodamage and acne scars to hidradenitis suppurativa and posttraumatic scarring from basal cell carcinoma excision. Further studies are needed, but these results suggest that ablative lasers are a superior, safe, and effective modality to treat damaged skin.     

Genetic alterations in RAS‐regulated pathway in acral lentiginous melanoma

Studies integrating clinicopathological and genetic features have revealed distinct patterns of genomic aberrations in Melanoma. Distributions of BRAF or NRAS mutations and gains of several oncogenes differ among melanoma subgroups, while 9p21 deletions are found in all melanoma subtypes. In the study, status of genes involved in cell cycle progression and apoptosis was evaluated in a panel of 17 frozen primary acral melanomas. NRAS mutations were found in 17% of the tumors. In contrast, BRAF mutations were not found. Gains of AURKA gene (20q13.3) were detected in 37.5% of samples, gains of CCND1 gene (11q13) or TERT gene (5p15.33) in 31.2% and gains of NRAS gene (1p13.2) in 25%. Alterations in 9p21 were identified in 69% of tumors. Gains of 11q13 and 20q13 were mutually exclusive, and 1p13.2 gain was associated with 5p15.33. Our findings showed that alterations in RAS‐related pathways are present in 87.5% of acral lentiginous melanomas.     

Self‐resolving superficial primary cutaneous mucormycosis in a 7‐week‐old infant

A 7‐week‐old girl, born at 30 weeks' gestational age, presented to clinic for evaluation of a crop of vesicular lesions that were noted after removal of a bandage that had been in place for 4 days. A punch biopsy of the lesion revealed fungal elements that were later identified as Rhizopus spp. The lesion began to self‐resolve, and no further treatment was needed, with full resolution of the lesion by 1 month after presentation. Clinicians should be aware of the variable presentations of mucormycosis and consider fungal infection in the differential diagnosis when evaluating vulnerable patients with skin eruptions.     

Pathogenic role of IL-17 in psoriasis and psoriatic arthritis

Psoriasis is a chronic inflammatory skin disorder resulting from a complex network of cytokines and chemokines produced by various immune cell types and tissue cells. Emerging evidence suggests a central role of IL-17 and IL-23/T17 axis in the pathogenesis of psoriasis, giving a rationale for using IL-17-blocking agents as therapeutics.Three agents targeting IL-17 signaling are being studied in Phase III clinical trials: secukinumab and ixekizumab (IL-17 neutralizing agents), and brodalumab (IL-17 receptor antagonist). Preliminary results are highly promising for all anti-IL17 agents, creating fair expectations on this class of agents as the new effective therapeutic approach for the treatment of psoriasis.