Blood endotyping distinguishes the profile of vitiligo from that of other inflammatory and autoimmune skin diseases

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加巴喷丁治疗带状疱疹后神经痛(附26例临床观察)

目的探讨加巴喷丁治疗带状疱疹后神经痛(Post herpetic neuralgia,PHN)的疗效及副作用。方法26例PHN患者,病程3个月~6年。均已接受多种治疗方法,但效果不佳,VAS评分4~8分。开始口服剂量加巴喷丁100 mg/次、3次/d。每间隔2~4 d增加剂量300 mg/d,直至疼痛缓解或出现难以耐受的副作用,最高用量为3 600 mg/d。以疼痛明显缓解或疼痛缓解的剂量维持用药。以维持用药或最高用量时VAS评分与用药前VAS评分比较,判定治疗效果。显效:VAS评分下降≥3分,病人生活质量明显改善;有效:VAS评分下降<3且≥1;无效:VAS评分无下降或<1分。结果显效17例(65.4%),有效8例(30.8%),无效1例(3.8%)。治疗有效率95.2%。治疗期间的副作用主要有乏力4例(15.4%)、头晕3例(11.5%)、嗜睡2例(7.7%)、恶心1例(3.8%)。结论加巴喷丁用于治疗带状疱疹后神经痛确实有效,耐受性好,不良反应轻。     

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex

BackgroundTuberous sclerosis complex (TSC) is a neurogenetic syndrome due to loss-of-function mutations in TSC2 or TSC1, characterized by tumors at multiple body sites, including facial angiofibroma (FAF). Here, an ultrasensitive assessment of the extent and range of UV-induced mutations in TSC facial skin was performed.MethodsA multiplex high-sensitivity PCR assay (MHPA) was developed, enabling mutation detection at extremely low (<0.1%) variant allele frequencies (VAFs).ResultsMHPA assays were developed for both TSC2 and TP53, and applied to 81 samples, including 66 skin biopsies. UV-induced second-hit mutation causing inactivation of TSC2 was pervasive in TSC facial skin with an average of 4.8 mutations per 2-mm biopsy at median VAF 0.08%, generating more than 150,000 incipient facial tumors (subclinical “micro-FAFs”) in the average TSC subject. The MHPA analysis also led to the identification of a refined UV-related indel signature and a recurrent complex mutation pattern, consisting of both a single-nucleotide or dinucleotide variant and a 1- to 9-nucleotide deletion, in cis.ConclusionTSC facial skin can be viewed as harboring a patchwork of clonal fibroblast proliferations (micro-FAFs) with indolent growth, a small proportion of which develop into clinically observable FAF. Our observations also expand the spectrum of UV-related mutation signatures.FundingThis work was supported by the TSC Alliance; the Engles Family Fund for Research in TSC and LAM; and the NIH, National Heart, Lung, and Blood Institute (U01HL131022-04 and Intramural Research Program).     

复方甘草酸苷在皮肤科中的临床应用

复方甘草酸苷是以甘草中的活性物质甘草甜素为主要成分,并以0.2%甘草酸苷、0.1%L-半胱氨酸和2%甘氨酸而制成的复方制剂,具有抗炎、抗过敏和糖皮质激素样作用,同时还具有免疫调节作用。而变态反应(包括Ⅰ、Ⅱ、Ⅲ型)常是许多皮肤病如银屑病、儿童水痘、过敏性紫癜、带状疱疹、湿疹、慢性荨麻疹、特应性皮炎、玫瑰糠疹、掌跖脓疱病、白癜风等的重要的发病机制,文章综述了复方甘草酸苷在皮肤科中的临床应用近况。     

Primary cutaneous Ewing sarcoma - Case report

Ewing sarcoma is a primitive neuroectodermal tumor rarely occurs in the skin and sobcutaneous tissues. Generally Ewing''s sarcoma is a primary bone tumor, but when present in soft tissues it characterizes an extremely uncommon clinical picture. It usually involves the deep subcutaneous tissue or muscles, and more rarely occurs like a primary skin cancer. Most patients are white, women, and in the second decade of life. The clinical features are a superficial mass, in average measuring 2-3 cm, of soft consistency, freely mobile and sometimes painful. The more affected locations are upper and lower extremities, trunk, head, neck or multiple lesions. The presence of metastases is very rare.