Klippel-Tvenyunay综合征1例

患儿男,1天。因出生后发现全身红色斑疹,下肢左右不对称收入院。体检:右面部、鼻根部、背部、右胸腹部、臀部、四肢(右侧多于左侧)均可见表面光滑,边界清楚,大小不等的淡紫红色斑疹,压之色减淡,哭闹时斑疹色加深。双下肢左右两侧发育不对称,双足不等大(右>左),右下肢比左下肢长3cm,大腿围右侧比左侧粗1.5cm,小腿围右侧比左侧粗1cm,　窝温度:右侧35.9℃,左侧35.8℃,四肢未见静脉曲张,余无异常。血液微循环示右侧毛细血管增生扩张。患儿7个月时随访发现皮疹色变淡,在哭闹时明显。下肢不对称更明显,且面部发育右侧大于左侧。本综合征又称骨肥大…     

Klippel-Trenaunay-Weber综合征1例报告

患者女 ,5 6岁。左面部血管瘤 5 6年。出生后即发现左侧面部有一血管瘤 ,面积约 2ｃｍ× 2ｃｍ ,未治疗。 2 0岁后 ,皮损逐渐增大 ,延至左侧躯干及上下肢 ,肢体增粗、增长、多汗 ,出现跛行。家族中无类似病患者。体检 :系统检查未见异常。皮肤科情况 :左侧头面部、胸、腰、腹部及上下肢见大片紫红色扁平斑块 ,边界清 ,触之有海绵感 (图 1)。患侧大腿较对侧粗 6.5ｃｍ ,伴多条静脉曲张 ,无破溃。患侧下肢比对侧长 7.0ｃｍ ,上肢长2 .0ｃｍ (图 2 )。实验室检查 :血常规、肝肾功能、心电图及胸片均无异常改变。Ｘ光摄片提示 :左股骨、髌骨、胫…     

骨肥大－静脉曲张综合征并神经纤维瘤病1例报告

骨肥大－静脉曲张综合征并神经纤维瘤病１例报告刘素芳，赵克宁，于芳患者男，２２岁，全身咖啡色斑点２２年，左下肢变粗增长１８年。患者于出生时背、腹、臀可见少数咖啡色斑点，４岁时发现左踝关节较右踝关节粗，但无任何不适，随年龄增长左踝继续增粗，病变范围逐渐向...     

Klippel-Trenaunay综合征合并下消化道出血1例

患者女,5岁。右下肢红斑5年伴反复便血1年。皮肤科情况:右侧臀部、下肢外侧和足背见大片紫红斑片,局部浅表静脉扩张明显,可见红褐色及紫黑色小丘疹;右下肢较左下肢略粗。MRI示:右下肢静脉发育畸形,浅静脉增粗、卷曲、不规则;肠镜检查示:直肠静脉曲张。诊断:Klippel-Trenaunay综合征并下消化道出血。     

泛发型线状表皮痣2例

<正>1临床资料例1女,14岁,左上肢、躯干左侧、右下肢疣状增生物7年。7岁时患者左上肢、躯干左侧、右下肢出现散在的角化性丘疹,随年龄的增长皮损不断增厚、粗糙,呈疣状。患者既往体健,无癫痫、精神发育迟缓、先天畸形、牙齿发育异常或骨骼畸形。体检:系统检查无异常。实验室及辅助检查:血、尿常规未见异常;肝肾功正常。皮肤科情况:左上臂、左腋下、左肩胛、左腰骶、双侧臀部、双侧大腿内侧、右第一二趾背、右足背、右胫前增     

国内首例慢性播散性副球孢子菌病

报道国内首例慢性播散性副球孢子菌病。患者男, 49岁, 因皮肤丘疹、结节1年, 口腔黏膜丘疹、溃疡2个月入院。皮肤科检查:左足水肿, 左足底多发溃疡, 表面结痂, 左足第3、4趾间及第4、5趾间溃疡, 基底呈颗粒状, 伴点状出血、渗出;左足背、左足内侧及左膝多发丘疹、结节、斑块, 中央溃疡、结痂;左腕部2个丘疹, 上唇左侧1个丘疹, 表面结痂;牙龈、颊黏膜、唇黏膜及上颚可见红色斑块伴溃疡、点状出血, 皮损以左侧为主。浅表淋巴结彩超:双侧颈部及锁骨上窝淋巴结肿大, 左侧为著。胸腹部计算机断层扫描图像示:双肺弥漫粟粒样结节影及条索状、云絮状、结节状高密度影, 左侧肾上腺明显增粗。口腔、左下肢皮损组织真菌免疫荧光染色, 可见酵母细胞。口腔黏膜、左下肢皮损组织病理:肉芽肿性炎, 多核巨细胞内外可见酵母细胞, 折射双膜, 无芽、单芽或多芽;过碘酸希夫染色、六胺银染色阳性。左下肢皮损组织真菌培养:25 ℃、37 ℃沙氏葡萄糖琼脂培养基中培养阳性, 均为菌丝相。口腔黏膜及肺泡灌洗液宏基因组学测序:巴西副球孢子菌。诊断:慢性播散性副球孢子菌病。予伊曲康唑胶囊400 mg/d口服, 1个月后皮肤、黏膜皮...     

炎性线状疣状表皮痣伴左足缺趾畸形一例

患儿,女,3岁,因左下肢带状皮疹,左足畸形3年就诊。患儿出生时左足仅有2趾,分别向足背和足掌侧屈曲。出生后3d无明显诱因左下肢出现带状红斑,遂至当地医院就诊,诊断不详。予外用药治疗(具体不详)后,皮损未消退,渐扩大并在数月内累及左足、外阴左侧,左手背和左上肢亦出现类似皮损     

Moulin线状皮肤萎缩1例

患儿女,14岁。左下肢线状萎缩斑3年余。皮肤科情况:左下肢见线状轻度萎缩斑,沿Blaschko线分布,表面色素沉着。皮损组织病理:表皮轻度角化过度,棘细胞轻度不规则增生,基底层灶状色素沉着,真皮浅层血管周少量淋巴细胞浸润,胶原纤维无增粗、致密和均质化。诊断:Moulin线状皮肤萎缩。     

先天型淋巴水肿伴疣状表皮痣一例北大核心CSCD

患者女,47岁,左下肢肿胀47年,左足疣状表皮痣30余年、患者于出生2个月后发现左下肢较右下肢明娃增粗、肿胀,未予任何诊治,左下肢肿胀逐渐加重,但对日常生活影响不大,无疼痛及其他不适症状。该患者17岁时发现左足拇趾处出现散在疣状物,就诊于当地医院,给予冷冻处理。     

骨肥大－静脉曲张综合征1例

骨肥大－静脉曲张综合征１例赵桂兰，孙静，王亚君患者女，１８岁。出生后发现左侧躯体较右侧肥大，行走时两下肢用力不均，左下肢力量不足，有明显跛行。随年龄增长症状逐渐加重。近４年左下肢浅静脉血管逐渐曲张。２年来左足背及外踝见紫红色扁平斑疹，微痒，皮温较正常...     

骨肥大静脉曲张性痣综合征1例

患者女,50岁,双下肢红斑44年,出现增生性皮疹1年。皮肤科情况:双下肢可见片状红斑,左下肢红斑表面有紫红色角化性丘疹,部分区域破溃,表面有血痂,左足踝部可见簇集紫红色丘疹,表面角化,顶端有灰白色角质物。左下肢软组织增生,较右下肢粗大。下肢血管CT成像示:双下肢软组织脉管畸形可能,左下肢、左足软组织肿胀。踝部及大腿紫红色丘疹组织病理示:表皮角化过度,棘层肥厚,表皮突下延,真皮浅层可见扩张毛细血管,管腔大小和形状不规则,血管内皮细胞无增生,腔内充满红细胞。诊断:骨肥大静脉曲张性痣综合征,血管角皮瘤。     

A case of Bockenheimer's syndrome (genuine diffuse phlebectasia): venous involvement inside muscles was detected by magnetic resonance imaging

We report a 13-year-old girl with an extensive bluish phlebectasia of the upper right arm and right side of the chest, which had been present since birth. There was no difference in length between the right (affected) and left (healthy) limbs, but the involved limb was thicker than the noninvolved limb. Magnetic resonance imaging showed distended veins with slow blood flow under the skin of the right limb. The veins inside the muscles of forearm were also involved. Histological examination of the bluish lesions revealed large phlebectasia showing distended veins without any proliferation of endothelial cells. The amount of elastin in the walls of these veins was decreased. The patient was diagnosed with Bockenheimer's syndrome. The characteristics of this rare syndrome are indicated and discussed.     

线状和漩涡状痣样过度黑素沉着病伴骨骼异常一例

患者，男，15岁。因全身出现线状、漩涡状色素沉着15年就诊。出生时左侧臀部可见局部突起，学步时发现跛行。X线检查示：右下肢较对侧缩短。诊断为线状和痣样过度黑素沉着病合并骨骼异常。     

静脉曲张性骨肥大综合征1例

患儿女,5岁8个月。右下肢结节、静脉曲张5年,跛行4年。皮损主要分布于右下肢,表现为蚯蚓状隆起的曲张静脉、混合状的血管瘤以及右下肢的肥大增长,同时伴皮肤鱼鳞样改变。结合X线和B超检查诊断为静脉曲张性骨肥大综合征。根据患者临床表现选择治疗方案,如曲张浅静脉的结扎、剥脱术,局部血管瘤激光治疗等。     

Segmental haemangioma of infancy of the lower limb with skeletal overgrowth

A female infant presented at 3 months of age with vascular lesions involving the left lower limb and left side of the vulva. At birth, the left leg was thinner than the right, but equal in length. She had macular, reticulate, bluish discolouration covering most of the skin of the involved leg with superimposed cherry-red papules, most dense over the proximal portion. The macular component showed evidence of improvement within the first few months of life. Papular and nodular components over the leg and the vulva progressively increased in size and thickness until the age of 10 months. These elements had the appearance and behaviour typical of haemangioma of infancy. Regression of these lesions started at the age of 15 months. By the age of 6.5 months, the involved leg was no longer thinner than the right, but the left leg and foot had grown longer. Leg length discrepancy peaked at 2.4 cm at the age of 2 years. The most rapid phase of relative growth discrepancy of left and right leg bones was contemporaneous with the growth phase of the haemangioma. Radiological investigations and histopathology have been consistent with haemangioma of infancy. GLUT-1 immunostaining of the lesion was positive.     

掌跖角化病并发手指鳞状细胞癌1例

患者女,47岁。右环指增生性肿物1年。组织病理示：表皮角化过度,棘层增厚,真皮内密布大量鳞状上皮岛,可见角珠及鳞状窝,并可见多个异常有丝分裂相。B超示：右腋窝-13．0mm×12．5mm×8．7mm肿大淋巴结。患者掌跖角化病病史25年,5年前右足跟部行截肢手术,术后病理提示为鳞状细胞癌。     

Location of ulcers on the lower limbs in relation to distal systolic blood pressure indices.

The distal systolic blood pressure indices (AI = ankle/arm and TI = toe/arm) of 100 patients with lower limb ulcers at a dermatology outpatient clinic were correlated to ulcer site. The left limb was more often ulcerated than the right. Most ulcers were situated medially, while ulcers on the anterior and posterior sides were infrequent. An AI below 0.9 and TI below 0.6 is usually considered to indicate arterial insufficiency. Forty-four per cent of the patients had an AI less than 0.9 and 66% a TI less than 0.6. The lowest mean indices in all ulcerated limbs were found in patients with ulcers on the feet, followed by those with ulcers in lateral and posterior positions. A significantly lower TI (p = 0.002) was found in the ulcerated limbs when comparing the patients with one ulcerated and one non-ulcerated leg, but no such difference was found for AI. Thus, the ulcerated and the seemingly healthy limb usually had about the same AI. In all patients, TI decreased significantly with age (p = 0.0001). TI was lower in men, than in women, when the effect of age was eliminated (p = 0.0509).     

儿童表皮痣综合征1例

 报告儿童表皮痣综合征1例。患儿女,6周岁,脚趾畸形6年,右侧下肢、腰部、肩部、项部及左侧脚背部散在红斑、丘疹5年余。患儿出生时右侧第2、3脚趾畸形,第3、4脚趾向内侧弯曲,右侧脚踝出现红色丘疹,丘疹逐渐增多并蔓延至整个右侧脚踝及脚背部;出生后2个月左右,右侧腰部、肩部、项部及左侧脚背开始出现红色丘疹,红色丘疹逐渐增多并融合,伴有明显的瘙痒感。皮肤科检查：右侧腰部、腹股沟、下肢及脚踝、脚背部红色疣状丘疹,伴有黄色鳞屑,部分融合成片状或线状;右侧肩部及项部肤色、棕色、红色丘疹;左侧脚背部线状红色斑块,皮疹沿Blaschko线分布。右侧第2、3脚趾畸形,第3、4脚趾向内侧弯曲。皮损组织病理示：表皮角化过度,表皮突下延,棘层肥厚,真皮浅层血管周围见少量炎性细胞浸润。诊断：表皮痣综合征。     

Cutis marmorata telangiectatica congenita: crossed limb dimelia]

We report a case of localized cutis marmorata telangiectatica congenita involving the right upper limb and the left lower limb. This is a rare distribution, with only one case in the literature. The patient, a 22-month old boy, showed no other abnormality.     

CHILD综合征长期随访一例

【摘要】 患儿女,87 d龄,出生后因右侧躯体片状红色斑块伴同侧肢体畸形于2012年1月就诊。皮肤科检查：右下腹、右臀部、右侧会阴部、右腿及右足部见明显红色斑块,表面附着黄色鳞屑,边界清楚,无明显渗出及异味;右下颌、右颈部、右腋下及右手第1 ~ 4指指背见淡黄色疣状增生;右足第2、3、4趾只有1个趾间关节且甲板缺如。右足X线片显示右足畸形及骨质缺损。诊断：CHILD综合征。患儿间断口服阿维A胶囊,外用凡士林、他卡西醇软膏、弱效糖皮质激素软膏6年余,用药时皮损可缓解,停药易反复,后改外用辛伐他汀软膏2年。皮损随年龄增长等比例增大,患肢较健侧肢体生长速度稍快。至2020年1月患儿右下颌、右颈部及右手第1 ~ 4指皮损消退,右手第5指出现新发带状疣状增生性斑块,右小腿皮损较前稍好转;无其他系统受累表现。