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。     

节段性神经纤维瘤病1例

<正>患儿女,4岁。左侧腰腹部出现许多肤色结节4年,于2013年2月26日来我院就诊。患儿出生时左侧腰腹部即有大量密集粟粒至绿豆大丘疹和结节,呈肤色,随身体逐渐长大,不痛不痒。曾在某医院诊断为幼年性黄色肉芽肿。既往体健,智力正常,无癫癎发作史。家族中无类似疾病史,有两姐一弟,其一个姐姐患轻度脑瘫,生活能部分自理,其余姐弟正常。体格检查:发育良好,无畸形。眼底、各颅神经及肢     

节段性神经纤维瘤病皮损的免疫细胞化学分析

经典型神经纤维瘤病(NF-1)也称多发性神经纤维瘤病,是一种常染色体显性遗传病.大约在3000～4000人中有1例患者.NF-1的基因位于第17号染色体的长臂上,但这种遗传缺陷的确切性质尚未明了.节段性神经纤维瘤病(SNF)的皮损限于皮区或部分皮区.该变型患者缺乏NF的家族史,无全身受累的证据.文献中大约已报告了20例.本文报告3例SNF,并对肿瘤的细胞分化和基质的组     

巨大神经纤维瘤病一例

患者女,36 岁。主诉全身多处巨大肉瘤20 余年,伴智力低下。患者出生后不久便发现背部有数个褐色斑片, 随年龄增长有所增大,且逐渐增多。大约10 岁左右腹部、下肢开始出现肉色、紫红色柔软结节,无疼痛,结节逐渐长大,以至于下垂,影响患者行动。无癫痫发作,未发现其他部位肿瘤和内分泌异常的表现。 既往史无特殊。检查:患者发育尚可,反 应较迟钝,尚能正确回答问题, 行动迟 缓, 有时需人搀扶。口腔内未见异常表 现。皮肤科情况:背部可见多个点状、片 状不规则咖啡斑, 有的斑片上散在…     

神经纤维瘤病Ⅰ型1例

患者男,16岁.因脊柱、胸廓畸形2年余,于2007年3月13日收住我院骨科.患者出生时背部即出现咖啡斑,逐渐扩大.1年前于咖啡斑上出现簇集状绿豆大丘疹,无自觉症状.2年前出现胸廓畸形.平素体健,智力正常,家族中无类似疾病患者.     

斑驳病合并神经纤维瘤病Ⅰ型一例

患者男,14岁,因额部、腹部、双下肢白斑伴黑褐色斑14年,于2007年8月12日到我院皮肤科就诊.患者出生时即发现前额部一小块白斑伴白发,腹部、双下肢白斑;面颈部、躯干、臀部黑褐色斑,随着年龄增长,皮损增大且数量增加,同时伴有腹股沟和臀部下方小雀斑样色素斑.无癫痫史,皮损处无炎症外伤史,无眼部炎症史,患者及家属否认家族中有类似疾病患者.     

神经纤维瘤病皮损恶变一例

患者女,48岁,因全身多发性肿物30余年,伴色素斑,左肩胛区肿物增大1年伴破溃于2005年4月就诊。30年前无诱因双乳晕部位出现玉米粒大小皮肤肿物数个,并伴省斑样褐色斑,随年龄增长皮肤肿物数量增加,并蔓延至全身,大小不等,无自觉症状。     

Ⅰ型神经纤维瘤病

报告1例以丛状型神经纤维瘤为典型临床表现的Ⅰ型神经纤维瘤病.患儿女,5岁.左上肢巨大褐色斑片伴毛发密集生长5年.皮肤科检查:颈胸部左侧到上肢巨大褐色斑片,其上密集增粗增多的毛发,全身散在多发的咖啡斑,下背部皮下结节以及双上肢粗细不等.左肱骨X线检查示左侧肱骨弯曲,鹰嘴窝扩大,局部骨质缺损.CT示左肱骨形态欠规则,鹰嘴窝扩大,左侧尺桡骨上段局限性骨质缺损伴软组织密度影填充.皮损组织病理:真皮层可见界限清楚但无包膜的肿瘤,由大量梭形瘤细胞组成,核细长,波浪状嵌在基质中.结合国内外文献对Ⅰ型神经纤维瘤病的病因、临床表现、并发症及治疗进行讨论,从而加强对该病的认识.     

神经纤维瘤病并发白癫风一例

患者男,26岁,1990年4月初诊.患者于生后不久皮肤出现揭色斑片,约2岁时发生皮肤肿瘤(其母诉).尔后逐年增多.     

A unique case of hereditary bilateral segmental neurofibromatosis on the face

Segmental neurofibromatosis is a rare clinical finding generally with no familyhistory and facial involvement. There are four subtypes of segmentalneurofibromatosis: true segmental, localized cases with deep involvement, hereditarysegmental and bilateral segmental neurofibromatosis. Here we report three patientsfrom the same family (father, son and granddaughter) with segmental bilateralneurofibromatosis on the face. This form hasn''t noticed in the literature.     

Sclerosing segmental neurofibromatosis

Segmental neurofibromatosis is a rare disorder characterized by cafe-au-lait macules and/or neurofibromas limited to a single body segment. The neurofibromas in segmental neurofibromatosis are usually soft, non-tender nodules as in other types of neurofibromatosis. Histopathologically, they are usually non-encapsulated, loosely textured dermal tumors. We report a case of sclerosing segmental neurofibromatosis, in which the patient presented with several grouped, erythematous to brownish, firm tender nodules on the left side of the posterior neck. Histopathologically, the stroma was mostly very fibrotic, especially around hair follicles, in addition to the usual features of neurofibroma. The atypical clinical feature, hardness, and tenderness of the lesions may be associated with the fibrosis.     

Cutaneous segmental neurofibromatosis

Two patients with multiple cutaneous neurofibromas restricted to a dermatomal portion of the skin are described. Neither patient had clinical evidence or a family history of generalized neurofibromatosis. Whether this represents a distinct disorder, sui generis, or a variant in the spectrum of neurofibromatosis is unknown.     

Bilateral segmental neurofibromatosis: a case report and review

A 65‐year‐old white woman presented with complaints of ‘‘moles’' on the left side of her trunk present for an undetermined period of time. She denied associated pain and pruritus. Her past medical history was significant for hypothyroidism and depression, for which she was taking levothyroxine and venlafaxine, respectively. In addition, she was on hormone replacement therapy. Reportedly, no other family members were affected by similar skin lesions. Physical examination revealed soft, dome‐shaped, skin‐colored papules grouped in a T11–12 dermatomal distribution on her trunk bilaterally. The lesions were more numerous and densely grouped on the right side of her trunk ( Figs 1 and 2 ). No axillary freckling or café‐au‐lait macules were noted. No Lisch nodules were observed upon ophthalmologic examination.

Figure 1 Open in figure viewer PowerPoint Dermatomal distribution of neurofibromas on the right flank     

Bilateral segmental neurofibromatosis]

Segmental neurofibromatosis is a rare type of neurofibromatosis. We report a case of bilateral manifestation, review the literature on this extremely uncommon variant, and discuss the possible causative mechanisms and the genetic risk of segmental neurofibromatosis.     

What is segmental neurofibromatosis?

Summary Two unrelated children with von Recklinghausen's neurofibromatosis (NF1) had mothers with cutaneous NF1 lesions in a limited distribution. The cutaneous pattern in the mother of case 1 was clearly segmental, and probably represents mosaicism for the NF1 mutation which was passed on to the child. In the second case the distribution in the mother was less obviously segmental, but may still represent mosaicism. It is more difficult to diagnose mosaicism for NF1 in individuals with no affected offspring, or with more limited cutaneous manifestations. The difficulties in defining segmental NF and assigning a genetic risk are discussed.