多发性神经纤维瘤病1例

临床资料患者,男,56岁,农民.因全身多发性肿物50余年,于2004年1月来我院就诊.50年前无明显诱因躯干部出现多个褐色斑片,因不痛不痒,未在意.后腰部出现黄豆大小的软疣样增生物数个,逐渐增大、增多,蔓延至全身,以躯干部为多.发病以来一直未就医.患者平素身体健康,无传染病史.     

神经纤维瘤病1例

1 临床资料 患者男，23岁。躯干四肢色素斑15年，赘瘤8年就诊。患者6岁起颈、躯干部皮肤散在色素咖啡斑，多呈类圆或多角形，同时在颈及躯干部有群集性雀斑样皮肤损害，随年龄增长，咖啡斑逐年扩大增多，雀斑样损害色素逐加深，弥漫增多。     

臀部巨大神经纤维瘤病1例

临床资料患者女，31岁。因右臀部肿物20年，于2006年3月至我科就诊。患者出生时全身分布多个大小不等咖啡斑．随年龄增长数目增多，面积扩大。20年前右臀部咖啡斑处出现鸡卵大小肿块，质软．无触痛，并进行性增大，占据右臀下半部，皮肤松弛，行走不适。既往体健．无癫痫病史．其子现年8岁，全身多发咖啡色斑（6个以上），未见肿物。     

巨大神经纤维瘤病1例

临床资料患者男,42岁。因全身大小不等的肿块30余年就诊于我院。患者自诉生后全身散在数个褐色斑点,以后斑点逐渐增多,无异常感觉,至幼年时先后于颈部、躯干、四肢出现黄豆大肿块,无痛,未曾破溃,近十年左下肢肿块渐增大,活动稍受影响,即就诊于我院。家族史：患者女儿14岁,皮肤有类似表现。     

神经纤维瘤病1例

1病例摘要 患者女，22岁。因全身泛发淡褐色斑32年，斑点增多并出现结节3年，于2007年8月7日来我科就诊。患者自幼即发现全身淡褐色斑点，但无结节。3年前生第二个孩子后，斑点逐步增多并出现大小不等结节，无痛痒。无头痛、头晕、恶心、呕吐等症。家族史：父亲、姐姐、妹妹及一女儿均有淡褐色斑，表现为神经系统、骨骼和皮肤发育异常。     

节段型神经纤维瘤病一例

患者,男,29岁。颈部咖啡斑、斑块2年。皮损组织病理示:表皮大致正常,真皮内可见境界清楚的无包膜团块,其内可见胞浆淡染的梭形细胞,细胞核扭曲变长,瘤体内散在肥大细胞。免疫组化:S-100阳性,CD34阳性。诊断为节段型神经纤维瘤病。     

基因检测诊断仅有咖啡色斑表现的儿童Ⅰ型神经纤维瘤病一例

目的 采用基因诊断一例散发的仅具有咖啡色斑的Ⅰ型神经纤维瘤病患儿。方法 在患者家系调查的基础上,收集患者和父母的血样,并采集健康对照血样100份,采用PCR技术对Ⅰ型神经纤维瘤病致病基因NF1基因进行扩增,并对其产物进行测序。结果 该患者父母及健康对照NF1基因为正常,具有咖啡色斑的患儿NF1基因第21外显子存在突变Q1174X,即第3520位碱基由胞嘧啶（C）转化为胸腺嘧啶（T）,形成提前终止密码子。结论 该患儿经基因诊断为一例散发的Ⅰ型神经纤维瘤病,NF1基因Q1174X突变是其致病突变。     

1型神经纤维瘤病合并白癜风1例

1临床资料 患者男,15岁,因"全身散在褐色色素斑15年"于2018年12月19日就诊于中国医科大学附属盛京医院.患者自出生起躯干、四肢即散在有大小不等的褐色斑片,斑片大小逐渐扩大,数目逐渐增多;4年前患者前胸、背部开始出现大小不等的结节,触之柔软,并缓慢扩展,增大增多,无明显触痛及感觉异常;1年前患者前胸出现多处大小...     

1型神经纤维瘤病伴大脑萎缩1例

患者女,19岁,躯干、四肢多发褐色斑片、肿物10余年,伴左腕部内翻畸形,癫痫发作及智力低下.皮肤科情况:躯干、四肢见大小不等褐色斑片,直径约数毫米至10 cm不等,另见多个大小不等皮色至淡红色肿物,直径约1～15 cm不等,肿物质软,界清,无触痛.头颅CT示:右侧大脑萎缩.皮肤肿物组织病理示:真皮见淡染瘤体,内见多数核...     

以指末节膨大为表现的神经纤维瘤病一例

患者女,11岁。全身泛发褐色斑,右手无名指增大10余年,广泛新生物3年。患者自出生时即发现背部有2外鸡蛋大小浅褐色斑,无红肿痛痒,4个月后渐波及全身,大小不等,深浅不一,无不适,右手无名指末节稍增粗,呈肤色,不发红,偶有痛感。近3年来全身渐出现多发性小结节,初为米粒大小,以后缓慢增大、增多,患儿时感腹痛,呈阵发     

神经纤维瘤1例

报告１例神经纤维瘤，患者男性，１８岁，出生后左小腿出现褐色斑疹。表面有黑毛生长。２年前开始左小腿逐渐增粗。组织病理变化：真皮限局性纤维组织，无包膜，边界清楚。纤维波浪形排列成束状及漩涡状，中间散布神经鞘细胞，细胞核呈卵圆形或梭形。     

Superficial malignant peripheral nerve sheath tumor arising from diffuse neurofibroma in a neurofibromatosis type 1 patient

Malignant peripheral nerve sheath tumors (MPNST) are regarded as sarcomas that arise from peripheral nerves or that display differentiation along the lines of the various elements of the nerve sheath. These tumors occur in deep soft tissues, but superficial primary MPNST with a cutaneous or subcutaneous origin have rarely been reported. A 70‐year‐old woman presented with a 3–4‐year history of a slowly enlarging soft nodule on the left side of her neck. The histopathological diagnosis of the nodule was low‐grade MPNST arising from diffuse neurofibroma. There was increased cellularity, but no necrosis or mitotic activity. These histopathological findings pose difficulties in differential diagnosis from a neurofibroma with atypical histological features. We report a rare case of superficial MPNST arising from diffuse neurofibroma associated with underlying occipital bone dysplasia in a neurofibromatosis type 1 patient.     

A case of multiple subungual glomus tumors associated with neurofibromatosis type 1.

Glomus tumor is a distinctive neoplasm characterized by the presence of cells that resemble the modified smooth muscle cells of the normal glomus body, which is a specialized form of arteriovenous anastomosis. We report a case of multiple subungual glomus tumors associated with neurofibromatosis and review the literature on the pathophysiology of this association.     

High-frequency ultrasound imaging for cutaneous neurofibroma in patients with neurofibromatosis type I

Background

Neurofibromas (NFs) are benign tumours arising from a nerve sheath, which are present in nearly all patients with neurofibromatosis type 1 (NF1). High-frequency ultrasound (HFU) systems, using frequencies over 20 MHz, were developed to improve visualization of skin tumours by means of increased resolution.

Objectives

To describe NFs by using HFU in patients with NF1.

Materials & Methods

Anonymized HFU (25-MHz) images of NFs were randomized. Initially, two dermatologist investigators, with experience in HFU imaging of the skin, together described the ultrasound images and established eight criteria for NFs. The same task was then repeated by two other dermatologists, also with experience in HFU imaging of the skin, independently, to establish inter-observer agreement.

Results

A total of 108 NFs in 29 patients were included. Superficial and subcutaneous NFs were hypoechoic with a round to spindle shape. Plexiform NFs were ill-defined, consisting of multiple hypoechoic linear zones. Good to excellent inter-observer agreement was found for six of the eight criteria (k>0.6).

Conclusion

This is the first series describing HFU skin imaging of NFs in patients with NF1. Lateral extension that may correspond to involvement of an adjacent nerve seems to be specific to NFs.

     

Topical sirolimus as an effective treatment for a deep neurofibroma in a patient with neurofibromatosis type I

A 14‐year‐old boy with neurofibromatosis type I (NF1) presented with a painful neurofibroma on his right palm. The lesion was treated with topical sirolimus, resulting in decreased size and pain and improvement in motor function of his hand. This case demonstrates the efficacy of topical sirolimus in the management of neurofibromas in NF1.     

Mosaic neurofibromatosis type 1

A 24-year-old man presented with numerous lentigines and multiple cafe-au-lait macules on both sides of the face, neck, and trunk as well as on the proximal area of the upper extremities and in the axillae. The pigmented lesions had a Blaschko-linear distribution on the upper trunk and were limited to the left side of the abdomen, with a sharp demarcation at the midline. Multiple, cutaneous neurofibromas were found on the trunk, and ophthalmologic examination showed a Lisch nodule in the left iris. The clinical findings and their widespread but segmental distribution were consistent with a diagnosis of mosaic neurofibromatosis type 1.     

Dendritic cell neurofibroma with pseudorosettes lacks mutations in exons 1-15 of the neurofibromatosis type 2 gene

Dendritic cell neurofibroma with pseudorosettes (DCNWPR) is a recently proposed variant of neurofibroma with a distinctive microscopic appearance that is produced by a pseudorosette pattern formed by small, dark, lymphocyte-like cells (Type I cells) arranged concentrically around larger cells, with pale-staining vesicular nuclei and copious faintly eosinophilic cytoplasm (Type II cells). Although DCNWPR appears not to be associated with neurofibromatosis (NF), 1 patient with DCNWPR has been described and suggested to have a form of NF because of multiple skin lesions, with 2 of them being DCNWPR as confirmed histologically. The aim of this study was to find out whether the neurofibromatosis type 2 (NF2) gene is mutated in DCNWPR. Seven histologically proven cases of DCNWPR, from which a substantial amount of archival paraffin-embedded material was available, were selected for this study. Three cases have been previously reported, including the intraneural lesion, and 4 cases were newly identified. There were 3 female and 4 male patients, ranging in age from 30 to 61 years (median, 48 yrs). All patients clinically presented with a small solitary lesion that was clinically diagnosed as fibroma or neurofibroma, and none of the patients had signs of NF. Follow-up was known for 6 patients (range, 1-5 yrs; median, 2.5 yrs) and was uneventful in each case. Microscopically, all lesions fulfilled the criteria for DCNWPR. Exons 1 to 15 of the NF2 gene were amplified by PCR using primers previously published. The amplified fragments were purified and sequenced. The obtained sequences were computer analyzed and compared with the data of the GenBank database. No mutation was identified in 5 analyzed samples from which suitable DNA had been extracted. DCNWPR appears to have no mutation in exons 1-15 of the NF2 gene. Given the relatively small number of cases studied, it seems premature to declare that a mutation of the NF2 gene is not involved in DCNWPR, as the possibility cannot be excluded that mutations were present but remained undetected because they occurred in exons that were not examined.     

皮肤孤立性神经纤维瘤1例

 报告皮肤孤立性神经纤维瘤1例。患者女,39岁,背部褐色结节1年。皮肤科情况：背部可见一0.8 cm×1.0 cm大小褐色结节,明显高于皮面。皮损组织病理示：表皮大致正常,真皮浅层可见境界清楚的无包膜团块,其内可见胞浆淡染的梭形细胞,细胞核扭曲变长,瘤体内散在肥大细胞。免疫组化：S-100阳性,EMA、Melan-A、HMB-45均阴性。诊断为孤立性神经纤维瘤。行手术完整切除,随访3年无复发。