Clinical features of 58 Japanese patients with mosaic neurofibromatosis 1

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutation in the NF1 tumor‐suppressor gene, and may sometimes manifest in a mosaic form. “Segmental NF1” is generally assumed to be the result of somatic mosaicism for a NF1 mutation, and patients with mosaic NF1 have typical features of NF1 limited to specific body segments. The clinical features of 58 patients (42 females and 16 males; aged 1–69 years; mean age, 23.4 years) with mosaic NF1 seen at the Jikei University Hospital during 2004–2007 and at the Jikei University Daisan Hospital during 2007–2011, were retrospectively studied. Somatic or gonosomal mosaicism was not investigated. Patients were classified into four groups: (i) pigmentary changes (café‐au‐lait spots and freckling) only (n = 32); (ii) neurofibromas only (n = 5); (iii) neurofibromas and pigmentary changes (n = 13); and (iv) solitary plexiform neurofibromas (n = 8). The area of involvement was variable. The majority of patients were asymptomatic, except patients with plexiform neurofibromas who presented most commonly with pain or tenderness. Lisch nodules were rarely seen. Only four of our 58 patients (6.9%) had specific NF1 complications, including language delay (n = 1) and bone deformity (n = 3). Two patients were ascertained through their children with generalized NF1. Patients with mosaic NF1 are at low risk of developing disease‐associated complications, except patients with plexiform neurofibromas. However, they need to be aware of the small risk of having a child with generalized NF1.     

Lisch nodules of the iris in neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch nodule represents one of the most common NF1 ocular manifestations. Several studies have reported that the Lisch nodule is a melanocytic hamartoma but its pathogenesis is still debated. We have studied the histopathological and ultrastructural features of a Lisch nodule of a 50-year-old woman biopsied during an intracapsular cataract extraction. Our researches revealed that it was composed of three main cytotypes: pigmented cells, fibroblast-like cells and mast cells, showing a pattern similar to a neurofibroma. Furthermore, we hypothesize that Lisch nodules are compatible with neurofibromas.     

Changes in the expression and distribution of fibronectin, laminin and tenascin by cultured fibroblasts from skin lesions of patients with tuberous sclerosis

Fibronectin, laminin and tenascin play an important part in the assembly of the extracellular matrix and the interaction of cells with it. In this study, changes in their expression and distribution associated with tuberous sclerosis are reported. Fibroblasts from three different tuberous sclerosis skin lesions (forehead plaque, neck fibroma and ungual fibroma) secreted more fibronectin and tenascin into their culture medium than did normal skin fibroblasts. Immunohistochemistry and flow cytometry showed that cells from an ungual fibroma which secreted most of each of these glycoproteins also retained more of them, associated mainly with the cell surface and a perinuclear area. Laminin was also produced by all fibroblasts but only in those from the neck fibroma was more both secreted and retained. The proportions of fibronectin/laminin/tenascin secreted by the skin lesion fibroblasts were markedly different from normal. The results suggest that the characteristic tissue hardening of skin lesions in tuberous sclerosis may result, at least in part, from differences in the expression and distribution of these critical components of the extracellular matrix and its consequent abnormal assembly.     

Molecular Genetic Analysis of the von Recklinghausen Neurofibromatosis (NF1) Gene Using Polymerase Chain Reaction-Single Strand Conformation Polymorphism (PCR-SSCP) Method

Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. The NF1 gene has been mapped to the pericentromeric region of the long arm of chromosome 17. Chromosome walking and sequencing of the NF1 gene have extended it's open reading frame; to date 49 exons have been identified. To investigate the mutation of the NF1 gene, the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method was applied to 4 exons of NF1 genes. We examined the DNAs from 49 samples, including those of 23 Japanese patients with NF1 (4 of these patients developed malignant schwannoma), a patient with segmental neurofibromatosis, and 14 clinically normal controls. A mutational band was detected in an exon of a tumor DNA extracted from a malignant schwannoma of a female NF1 patient. However, the mutation was not found in the germ line DNA of this patient. No mutations were detected in the other samples.     

Distribution of glial fibrillary acidic protein (GFAP) in the intermediate filaments of the cultured cells from a patient with tuberous sclerosis

We established a cell line (TS) from adenoma sebaceum of a patient with tuberous sclerosis. Through our previous studies, the abnormal cell division and dysfunction of TS cells were indicated. Glial fibrillary acidic protein (GFAP) and 55 kd protein had been to be major cytoskeletal proteins in these cells. This time we have examined the structure and distribution of cytoskeletons in TS cells with immunoelectron microscopy. TS cells were found to coexpress GFAP and vimentin-like substance; both structures seem to be closely related. The coexistence of a few kinds of proteins integrated in the cytoskeletons might lead to the abnormal behavior of the nucleus during the process of cell division.     

移植物抗宿主病的皮肤表现及治疗进展

移植物抗宿主病是常见于异基因造血干细胞移植术后的一种累及多器官的免疫性疾病。随着移植术广泛开展,有效防治本病成为研究热点。移植物抗宿主病主要出现在病程早期皮肤表现损害多样化。系统应用糖皮质激素为传统一线疗法,但长期用糖皮质激素会引起多种严重的不良反应,因此,各种新的治疗措施研究引起普遍关注。     

全面、有序地描述皮肤病的临床表现

皮肤病临床表现的描述不全面、杂乱的情况非常多见。一种皮肤病的完整临床表现包括发病情况、人的特征、时间特征、部位特征、皮疹特征、自觉症状、黏膜及皮肤附件特征、全身及其他系统表现,共8个方面。此外,皮肤病临床表现的描述还应遵循一定顺序。以寻常性银屑病为例介绍如何全面、有序地描述皮肤病的临床表现。     

以急性发热性嗜中性皮病皮疹为表现的白塞病1例

分析报告 1例以急性发热性嗜中性皮病皮疹为表现的白塞病。患者表现为急性发热性嗜中性皮病皮疹 ,伴口腔溃疡、关节疼痛 ,组织病理符合皮肤急性发热性嗜中性粒细胞增多性皮病 ,皮肤针刺反应阳性 ,诊断白塞病。     

Leiomyoblastoma and Leiomyomatosis of the Small Intestine in a Case of von Recklinghausen's Disease

A 70-year-old patient with von Recklinghausen's neurofibromatosis 1 (NF1) developed a stomach ulcer and underwent a total gasterectomy. During the laparotomy, a leiomyoblastoma and multiple leiomyomas, which were histologically diagnosed as such later, were found in the small intestine and resected. It is quite possible that the association of gastrointestinal leiomyomas and NF1 is more than coincidental. It is thus important to take this complication into account in clinical treatment of patients with NF1.     

Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. This study was performed in one familial and two sporadic cases with TSC. Two novel mutations (c.1884_1887delAAAG and c.5266A>G) and two previously reported mutations (c.4258_4261delTCAG and c.1960G>C) were identified by direct DNA sequencing. Of the four mutations, c.1884_1887delAAAG and c.1960G>C were found in a family and identified in the same allele by TA cloning sequencing. However, c.1960G>C was reported to be non‐pathogenic. Furthermore, correlations between genotypes and phenotypes of Chinese Han patients since 2014 were performed by paired χ²‐tests in our published work review, which has not been reported. The results showed that patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations. Genetically, they had a higher frequency of familial inheritance.     

Malignant Schwannoma Arising in Patients with Von Recklinghausen's Disease: Report of Two Cases and the Comparison of Mast Cells between Benign and Malignant Portions

We described two cases of malignant schwannoma arising in patients with von Recklinghausen's disease and examined the mast cells infiltrated into histologic sections. One of the two cases histologically revealed apparent mast cell infiltration in some areas of malignant schwannoma as well as in the benign neurofibroma. The malignant lesion demonstrated significantly increased percentages of degranulated mast cells over the benign lesion using FITC-avidin staining. In an electron microscopic study, mast cells in the malignant lesion displayed empty granules, piecemeal degranulation, and canaliculi structures suggesting activation. These findings were not observed in the benign lesion. The other patient histologically showed no mast cells in the malignant lesion, although the benign neurofibroma in the patient disclosed numerous mast cells. The first patient had neither recurrence nor distant metastasis. On the other hand, the second patient without mast cells in the histology had multiple distant metastases. These findings raise questions about the role of mast cells in malignant schwannoma.     

Cutaneous Manifestations of HIV/AIDS in the Era of Highly Active Antiretroviral Therapy: Evidence from Bangladesh

Objective: Skin diseases are common and striking features of patients with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) and may vary considerably by ethnic and geographic regions and by the influence of highly active antiretroviral therapy (HAART). However, little information exists regarding the cutaneous manifestations of patients with HIV/AIDS in Bangladesh. This study was performed to elucidate the spectrum of cutaneous disorders in patients with HIV/AIDS in the...     

Correlation Between Cutaneous Manifestations and Functional Alterations in Chronic Venous Disease of the Lower Extremities

Background and aimsFew studies have evaluated the correlation between the severity of cutaneous manifestations of chronic venous disease (CVD) of the lower limbs measured by the Clinical, Etiologic, Anatomic and Pathophysiologic classification (CEAP) and the Venous Clinical Severity Score (VCSS) combined, its risk factors, and venous reflux determined by Doppler ultrasonography. The purpose of this study was to compare the clinical severity assessed by CEAP and VCSS with known risk factors for CVD and the severity of venous reflux.MethodsA prospective study was carried out on 250 patients with CVD characterized as C2 to C6 according to the CEAP classification, who attended the departments of Dermatology and Vascular Medicine at the Hospital Privado Universitario de Córdoba from April 2013 to December 2014. Chi-square test, Kruskal–Wallis analysis and multivariate logistic regression analysis were performed to examine the relations between these variables.ResultsRisk factors significantly associated with clinical severity included older age, hypertension, obesity, sedentarism, history of soft tissue infection, deep vein thrombosis (DVT), previous ulcer, and family history of venous ulcer. Both scores showed a good correlation between clinical severity and the presence of superficial, deep or perforating venous reflux. Older age, male gender and a history of DVT were significant risk factors for venous reflux in patients with mild disease.ConclusionsIn addition to venous reflux, modifiable risk factors such as obesity, sedentarism, and hypertension are associated with CVD severity. Mild cutaneous manifestations may accompany moderate to severe venous reflux, especially in middle-aged or older men with a history of DVT.     

从络病学说新视角论治皮肌炎

从中医络病理论探讨皮肌炎的中医病机及治疗,从络病论治皮肌炎是中医药治疗这一难治性疾病取得疗效突破的切入点。根据皮肌炎的发病特点、病位、传变规律、临床症状及疾病的特点等,认为络脉病变贯穿于皮肌炎发生发展。从络病学说和皮肌炎的现代研究出发,揭示了二者间存在密切联系;并分5个证型从络病论治皮肌炎。     

白塞病(Behcet syndrome)患者合并妊娠后结局的探讨

目的:探讨白塞病合并妊娠后结局的患者的特点。方法:选取2009年l月~2010年12月选择大庆龙南医院及油田总医院妊娠合并白塞病的患者,通过观察患者妊娠结局、分娩途径及各项指标随访。结论:白塞病患者需症状及各项指标达到正常,且强的松片维持剂量为5mg者可考虑继续妊娠,且分娩途径以剖宫产结束分娩较好。     

深圳市2002年性病流行病学分析

目的：了解深圳市2002年性病流行特征，为政府制订预防控制措施提供科学依据。方法：对深圳市2002年性病年报资料及人口数据进行统计分析。结果：深圳市2002年性病报告病例数为12531例，较2001年增长了36．80％，年报告总发病率278．47／10万。艾滋病病毒(HIV)感染者及艾滋病患者(AIDS)报告数成倍增长，非淋菌性尿道炎(NGU)发病率最高，尖锐湿疣位居性病构成第二位，淋病排第三位，仍是性病优势病种，但构成比继续下降。结论：HIV／AIDS、NGU的增长呈明显上升趋势，先天梅毒形势不容乐观，应大力加强对孕妇的产前性病体检工作。