儿童肥大细胞增生症患者疫苗接种安全性调查

目的 评价儿童肥大细胞增生症患者接种疫苗的安全性,为指导本病患儿接种疫苗提供流行病学数据支持。方法 对2014年1月-2020年1月至北京儿童医院皮肤科就诊,经临床及病理确诊的肥大细胞增生症患儿疫苗接种情况进行调查,用SPSS22.0进行数据分析。结果 167例患者中,153例(91.62%)患者按计划进行了疫苗接种,其中色素性荨麻疹109例,肥大细胞瘤39例,弥漫性皮肤肥大细胞增生症5例。96.08%的患者接种疫苗后未发生不良反应,3.92%的患者接种疫苗后发生了不良反应,主要表现为发热、皮肤潮红、皮损出风团、皮损增多。色素性荨麻疹、肥大细胞瘤及弥漫性肥大细胞增生症患者接种疫苗后不良反应发生率分别为3.67%、2.56%和20.00%,三者差异无统计学意义(P>0.01)。结论 儿童肥大细胞增生症患者接种疫苗较安全,除特殊情况外,如晕厥和休克等严重介质释放症状,可按国家免疫计划进行疫苗接种。     

皮肤肥大细胞瘤12例分析

目的 探讨皮肤肥大细胞瘤的临床和病理特点.方法 收集12例皮肤肥大细胞瘤患儿的临床和组织病理资料.结果 12例患儿,男7例,女5例,平均年龄6.8个月,平均病程6.5个月.11例出生时即有皮疹,主要位于躯干和四肢.皮疹均为大小不一的棕褐色或橘黄色斑块、结节,单发或多发,6例病程中出现水疱,1例发生溃疡.10例皮损Darier征阳性.12例均行组织病理检查,结果显示,真皮和皮下组织密集分布许多大小、形态较均一的肥大细胞浸润,甲苯胺蓝染色阳性,免疫组化CD117阳性.3例伴较多的嗜酸性粒细胞浸润,并见表皮下均有水疱形成.其中1例可见“火焰现象”.治疗多采取口服抗组胺药等对症治疗.10例随访2～6年,皮损均变小或消退,局部遗留色素沉着或色素减退斑.结论 肥大细胞瘤的诊断主要依靠临床和组织病理检查.儿童肥大细胞瘤预后良好,数年后大多数会自动消退.     

皮肤肥大细胞增生症15例临床病理分析

目的:探讨皮肤肥大细胞增生症(CM)的临床病理和免疫表型特征.方法:对15例CM进行临床病理观察和免疫表型检测(SP法染色).结果:15例患者年龄为2个月～27岁,其中10例患者年龄<6个月,男:女为1:1.1.荨麻疹样色素沉着/斑丘疹皮肤肥大细胞增生症13例,肥大细胞瘤2例.甲苯胺蓝染色显示15例肥大细胞胞质内均出现多少不等的紫红色异染颗粒.免疫组化染色显示10/12例患者肥大细胞表达类胰蛋白酶(tryptase),8/12例患者肥大细胞表达CD117,所有患者肥大细胞均不表达CD1a和S-100蛋白.结论:CM好发于儿童,大多数患儿在6个月内发病,其诊断通过询问病史及体格检查可以确定,皮损组织病理检查可确定真皮内肥大细胞数量增多,但类胰蛋白酶或CD117阴性不能排除该病的诊断.儿童CM预后较好,大多数患儿皮损在青春前期或青春期改善或消退.     

色素性荨麻疹的诊断与发病机制研究进展

色素性荨麻疹(urticaria pigmentosa,UP)是肥大细胞增生症中最常见的皮损类型,可分为单一形态型、多形态型。成人和儿童肥大细胞增生症患者均常有UP皮损,但临床特点和预后上有所差异。在明确有肥大细胞增生症皮肤表现的患者中,需完善相关检查排除系统性肥大细胞增生症才能诊断皮肤肥大细胞增生症(cutaneous mastocytosis,CM),CM中满足UP皮损特点即可诊断为UP。偶发的c-kit基因功能获得性突变在肥大细胞增生症的发病机制中起到了重要的作用。CM的临床治疗主要以避免和减少肥大细胞释放介质、改善症状为主。     

成人色素性荨麻疹1例

色素性荨麻疹（Urticaria pigmentosa，UP）属于皮肤肥大细胞增生症的一种，病因不明，其发病率为1：8000～1：1000之间，男女发病率相当。大多数患者为儿童,成人发病不常见。本文报道1例典型的成人色素性荨麻疹。     

成人型色素性荨麻疹1例

色素性荨麻疹又称斑丘疹性皮肤肥大细胞增生症，多在幼儿和青春期发病，成人发病不常见。c—kit基因突变是多数肥大细胞增生症的病因，本文报道临床所见1例典型成人色素性荨麻疹。     

结节型皮肤肥大细胞增生症2例

报告2例结节型皮肤肥大细胞增生症患儿。2例患儿均为出生后不久发病,表现为躯干和四肢散发的结节性皮损,部分皮损表面可出现水疱。皮肤组织病理表现为真皮浅层或中层弥漫肥大细胞浸润,Giemsa染色可见肥大细胞内紫红色异染颗粒。结合病史、临床表现和组织病理学改变诊断为结节型皮肤肥大细胞增生症。     

成人型色素性荨麻疹1例

色素性荨麻疹又称斑丘疹性皮肤肥大细胞增生症,多在幼儿和青春期发病,成人发病不常见.c-kit基因突变是多数肥大细胞增生症的病因,1本文报道临床所见1例典型成人色素性荨麻疹. 临床资料患者男,56岁,因全身褐色斑丘疹5年就诊,5年前患者躯干出现数处淡红色圆形斑疹,缓慢增多,颜色逐渐转变为红褐色,后蔓延至颜面和四肢.皮损不能自行消失,无明显自觉症状.     

皮肤肥大细胞瘤6例病例报道及文献复习

目的了解儿童皮肤肥大细胞瘤的临床特点。方法收集诊治的6例儿童皮肤肥大细胞瘤的临床资料,并复习近年来国内文献报道的资料完整的14例病例,分析疾病的临床表现、治疗及随访情况。结果共20例,男7例,女13例,平均年龄(11.7±8.6)个月,平均病程(9.3±6.7)个月。65%的患者出生时即有皮疹。皮损多为单发,以躯干为主。治疗多采取抗组胺药、糖皮质激素或手术切除。10例患儿随访2~60个月,皮损均有一定程度减退,局部遗留色素沉着或色素减退斑。结论肥大细胞瘤主要发生于婴幼儿,通常2岁以前发病,皮疹多为单发,好发于躯干,预后良好。     

大疱性色素性荨麻疹1例

目的　介绍 1例大疱性色素性荨麻疹的临床资料并探讨该病的最新研究进展。方法　取臀部新发皮损做皮肤组织病理和Giemsa染色检查真皮内肥大细胞。结果　表皮大致正常 ,表皮下水疱形成 ,真皮内有大量大小一致的、圆形、胞浆淡染的、单一核细胞 ,Giemsa染色示胞浆内有紫红色颗粒 ,证明是肥大细胞。结论　大疱性色素性荨麻疹是肥大细胞增生症的一个特殊类型。     

Pediatric mastocytosis.

The onset of mastocytosis occurs between birth and 2 years of age in approximately 55% of all cases; an additional 10% develop the disease before the age of 15 years. Mastocytosis in these age groups differs in many respects from mastocytosis that has its onset in adulthood. The typical presentation of pediatric-onset mastocytosis consists of cutaneous manifestations: either a solitary mastocytoma, urticaria pigmentosa, or, less commonly, diffuse cutaneous mastocytosis. Particularly in infants, bullous eruptions may occur. Mastocytosis in infants and children may involve internal organs, including the bone marrow and the gastrointestinal tract, although such manifestations appear to be less common in children than in adults. Plasma histamine levels may be elevated in pediatric-onset mastocytosis. Treatment usually involves the use of H1 and H2 antihistamines to control itching and to control the hypersecretion of gastric acid that may occur. The prognosis for children with mast cell disease is variable; approximately half of the children with urticaria pigmentosa may experience resolution of lesions and symptoms by adolescence.     

Cutaneous mastocytosis in children: a clinical analysis of 71 cases

OBJECTIVE: To characterize the clinical features, response to therapy, evolution and prognosis of cutaneous mastocytosis in children. BACKGROUND: Mastocytosis in children, instead of being induced by a potentially oncogenic c-kit mutation, is probably a clonal disease with benign prognosis. METHODS: The clinicopathological features, evolution and response to treatment were analysed in 71 children with mastocytosis. RESULTS: There were 53 (75%) cases of urticaria pigmentosa, 12 (17%) cases of mastocytoma, and six (8%) cases of diffuse cutaneous mastocytosis. In 92% of cases disease onset was in the first year of life. There was a male predominance 1.8 : 1. Treatment did not modify the disease evolution. Eighty per cent of patients improved or had spontaneous resolution of the disease. CONCLUSION: The most frequent clinical form of mastocytosis was urticaria pigmentosa followed by mastocytoma and diffuse cutaneous mastocytosis. Darier's sign was present in 94% of cases. A negative Darier's sign does not rule out mastocytosis. In contrast to adults, mastocytosis in children usually has a benign course making sophisticated or invasive diagnostic tests unnecessary. A classification of paediatric cutaneous mastocytosis is proposed.     

The skin in mastocytosis.

The most frequent site of organ involvement in patients with any form of mastocytosis is the skin. Cutaneous expressions include urticaria pigmentosa, mastocytoma, diffuse and erythrodermic cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans. The cutaneous lesions tend to appear early in life. Although urticaria pigmentosa has been reported in 12 pairs of twins and one set of triplets, the majority of affected individuals have no familial association. Most patients with systemic mastocytosis have skin lesions; however, an occasional patient will have systemic disease with no other skin features than flushing. In lesional cutaneous sites and in non-lesional skin, there is an increase in the number of mast cells. Electron microscopy shows quantitative differences between lesional skin mast cells from patients with and without systemic disease. The mast cells from adult patients with systemic disease have a larger mean cytoplasmic area, nuclear size, and granule diameter. The granules contain predominantly grating/lattice structures. The cutaneous mast cells contain tryptase and chymase. They retain their functional reactivities to relevant secretory stimuli, such as C3a, morphine sulfate, and calcium ionophore A23187. Lesional skin contains histamine, leukotriene B4, prostaglandin D2, 5-hydroxyeicosatetraenoic acid, platelet-activating factor, and heparin. Treatment of the cutaneous manifestations includes the use of H1 and H2 antihistamines, oral disodium cromoglycate, psoralens plus ultraviolet A photochemotherapy, and potent topical corticosteroid preparations.     

Paediatric mastocytosis: a systematic review of 1747 cases

Paediatric mastocytosis was previously considered to be a benign and spontaneously regressing disease. However, this evolution is impossible to predict. To clarify the characteristics and course of paediatric mastocytosis, we performed a literature review of 1747 cases published between 1950 and April 2014. Lesions occurred before the age of 2 years in 90% of cases, and presented as urticaria pigmentosa (75% of cases), mastocytoma (20%) or diffuse cutaneous mastocytosis (5%). The male‐to‐female ratio was 1·4. KIT D816V mutation was detected in 34% of 215 tested patients. Clinical regression (complete or partial) occurred in 67% of cases and stabilization in 27%. However, the outcome was fatal in 2·9% of patients.     

Cutaneous mastocytosis: demographic aspects and clinical features of 55 patients

BACKGROUND: Mastocytosis is a rare, heterogeneous group of disorder with abnormal increase of mast cells in one or more organ systems. OBJECTIVE: To evaluate the demographic and clinical features of cutaneous mastocytosis (CM). METHODS: Records of 55 patients with cutaneous mastocytosis were retrospectively analysed. RESULTS: Of the 22 females and 33 males, 80% had urticaria pigmentosa/maculopapular CM and 20% had mastocytoma. Of all cases, 81.8% had first lesions in childhood. The most common presentation was involvement of trunk together with extremities. Thirteen (23.6%) patients had history of bulla; Darier's sign was positive in 34 of 38 patients. Itching was the most common complaint, provocated by hot weather/bath. CONCLUSION: Clinical presentations of urticaria pigmentosa/maculopapular CM and mastocytoma are similar regarding gender, age of onset, age of diagnosis, and presence of Darier's sign and history of bulla. In contrast to mastocytoma, urticaria pigmentosa/maculopapular CM lesions were frequently located on trunk together with extremities.     

Mastocytosis in children: a protocol for management

Abstract:  Mastocytosis is characterized by an increased number of mast cells with an abnormal growth and accumulation in one or more organs. In most children mastocytosis is limited to the skin (cutaneous mastocytosis) and often transient as compared with that in adults in whom mastocytosis is usually progressive and systemic. Generally, we recognize three more common forms of cutaneous mastocytosis: maculopapulous mastocytosis (formerly urticaria pigmentosa), mastocytoma of skin, and diffuse cutaneous mastocytosis. Childhood mastocytosis can further be divided into cutaneous mastocytosis (nonpersisting and persisting) and systemic mastocytosis (extremely rare). An approach to management using a set protocol is described in table form. In most cases of mastocytosis, only yearly checkups are necessary and no treatment is required; preventive recommendations are warranted in those individuals with systemic disease and constitutional symptoms. Symptomatic therapy is advised in only a minority of cases. This article is meant as a guideline for physicians involved in the care of children with mastocytosis and their parents.     

Cutaneous mastocytosis: A dermatological perspective

Mastocytosis is a rare disease characterised by expansion and collection of clonal mast cells in various organs including the skin, bone marrow, spleen, lymph nodes and gastrointestinal tract. The prevalence of mastocytosis has been estimated to be one in 10 000, while the estimated incidence is one per 100 000 people per year. Cutaneous mastocytosis is classified into (i) maculopapular cutaneous mastocytosis, also known as urticaria pigmentosa; (ii) diffuse cutaneous mastocytosis; and (iii) mastocytoma of the skin. In adults, cutaneous lesions are usually associated with indolent systemic mastocytosis and have a chronic evolution. Paediatric patients, on the contrary, have often cutaneous manifestations without systemic involvement and usually experience a spontaneous regression. Diagnosis of cutaneous mastocytosis may be challenging due to the rarity of the disease and the overlap of cutaneous manifestations. This short review describes pathogenesis and clinical aspects of cutaneous mastocytosis with a focus on diagnosis and currently available therapies.     

Diagnosis and Treatment of Cutaneous Mastocytosis in Children

Cutaneous mastocytosis in children is a generally benign disease that can present at birth and is often associated with mast cell mediator-related symptoms including pruritus, flushing, and abdominal pain with diarrhea. The most common form of presentation is urticaria pigmentosa, also referred to as maculopapular mastocytosis. Flares of lesions are induced by triggers such as physical stimuli, changes in temperature, anxiety, medications, and exercise. The skin lesions are typically present on the extremities. Symptoms respond to topical and systemic anti-mediator therapy including antihistamines and cromolyn sodium. Remission at puberty is seen in a majority of cases. Progression to systemic mastocytosis with involvement of extracutaneous organs is not common. The cause of cutaneous mastocytosis is unknown and familial cases are rare. Mutations of c-kit have been observed in the skin of those affected. The diagnosis is established on clinical grounds and the findings on skin biopsy. Bone marrow studies are recommended if there is suspicion of progression of disease to an adult form, if cytoreductive therapy is contemplated, or if skin lesions remain present and/or tryptase levels remain elevated after puberty. The use of chemotherapy, including kinase inhibitors, is strongly discouraged unless severe hematologic disease is present, since malignant evolution is extremely rare.