变形综合征

一个在癌基因AKT1的的体细胞激活突变已发现导致变形综合征，皮肤，结缔组织，大脑和其他组织的过度生长为特征的条件，根据在线7月27日在新英格兰医学杂志发表的一项研究。

7月27日（健康新闻） - 一个在癌基因AKT1的的体细胞激活突变已发现导致变形综合征，皮肤增生为特征的条件，结缔组织，大脑和其他组织，根据一项研究，在网上公布7月27日在新英格兰医学杂志。

Lindhurst博士，来自马里兰州贝塞斯达的国家人类基因组研究所，和同事评估是否变形综合征嵌合体的突变引起的。受影响的组织活检标本的DNA序列进行了比较与未受影响的组织。定制限制酶分析15829例样本中的DNA分析，观察协会证实并扩展。在受影响的组织AKT蛋白激活特定磷酸化抗体免疫印迹检测。

研究人员发现在29例患者中有26的癌基因AKT1的体激活突变。外加剂从1到50％不等的突变的等位基因的组织和细胞系突变的细胞呈现出更大的AKT磷酸化控制细胞株，从病人被发现。一对从同一起跑线文化生成，但在不同的突变状态的单细胞克隆Akt的磷酸化水平不同。

“的Proteus综合征是由在AKT1的体细胞激活突变，证明体细胞嵌合体的假说，”作者写道。

一种与变形综合征相关的AKT1镶嵌激活突变
副标题：A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
作者： 来源：中国医学论坛报 日期：2011-09-08

玛乔丽·J·林德赫斯特（Lindhurst）等 美国国立卫生研究院国立人类基因组研究所等 背景 变形综合征以皮肤、结缔组织、脑和其他组织过度生长为特征。有人假设该综合征由一种突变的体细胞镶嵌现象引起，该突变在非镶嵌状态有致死性。 方法 我们对从变形综合征患者获取的活检样本DNA实施了外显子组测序，并将得出的DNA序列与从相同患者获取的未受累组织的序列进行比较。我们使用一种常规限制酶测定法分析了来自29例变形综合征患者的158份样本DNA，证实并扩展了一种已观察到的关联性。我们随后使用蛋白质印迹上的磷酸化特异性抗体测定了受累组织的AKT蛋白激活（情况）。 结果 在29例变形综合征患者中，26例在编码AKT1激酶（一种已知可介导细胞增殖和细胞凋亡等过程的酶）的癌基因AKT1......
Proteus综合症

一种显性遗传的疾病,其特征为巨头症,脂肪瘤,血管瘤,上肢或下肢的不对称以及大的平底足(moccasin feet).

本综合征是以希腊神话中变幻不定的海神普罗狄斯来命名.其病因不明.其他的征象包括低血钙症,抽搐发作与肌肉萎缩.治疗限于对症.
象面人
医学的一种非遗传性疾病。该病发展缓慢，患者往往自幼患病，肿块生长于人体的面部、背部、四肢等部位，同时，皮肤上可见咖啡斑沉着。如病人得不到及时治疗，长期拖延，病情不断恶化，面部的肿瘤将不断长大。因患者面容似“象人”，故人们习惯称其为“象面人”。

病因为普罗蒂斯综合症的一种表现

象面人病因揭密---Proteus（普罗蒂斯）综合症

Proteus（普罗蒂斯）是古希腊神话中的海神，它就像中国神话小说《西游记》中的孙悟空，可以七十二变。1983年，德国的一位儿科医生用“普罗蒂斯”的名字把这种病命名为“Proteus综合征”（普罗蒂斯综合征），比喻这种疾病的表现就像海神普罗蒂斯一样变化多端。

“普罗蒂斯综合征”不具有家族史和遗传性，均为散发病例，男女发病率相同，临床表现各式各样，多达150种，各病例之间有很大差别。其病理改变属于一种罕见的错构增生综合征，以皮肤、骨骼及软组织的不对称过度生长为主要特点。皮下瘤样病变包括：脂肪瘤、血管瘤、神经纤维瘤、间叶瘤和其他结缔组织肿瘤，通常不合并恶性肿瘤。该病的发病原因目前尚不明确，一般认为与遗传基因变异有关。在胚胎发育期，由于基因突变或其他原因，导致机体部分体细胞中的遗传物质发生了改变，形成嵌合性DNA分子及嵌合性染色体。这样，在细胞分裂过程中就会造成子代体细胞的嵌合性，并形成机体的嵌合体相关疾病及嵌合性病变。

1983年，德国儿科医生Wiedemann首先提出了“普罗蒂斯综合征”的7条诊断标准：1.巨手、巨足；2.疣状痣（表皮痣，皮脂腺痣）；3.偏侧肥大；4.皮下肿瘤；5.颅骨畸形；6.生长发育过快；7.内脏异常。他认为，具备上述特征中的四项，即可诊断为“普罗蒂斯综合征”。

1989年和1994年，美国华盛顿陆军医学中心、美国斯坦福大学医学院先后对“普罗蒂斯综合征”的诊断标准进行了修订，根据该病的临床表现，提出了6条诊断标准，并分别以分值量化：1.偏侧肥大和/或巨指（趾）症5.0分；2.足跖和/或手掌脑回状增生4.0分；3.脂肪瘤和其他皮下肿瘤4.0分；4.疣状痣（表皮痣/皮脂腺痣）3.0分；5.巨颅和/或颅骨多发外生骨疣2.5分；6.其他细小异常1.0分。上述6项分值合计≥13分，可确诊为“普罗蒂斯综合征”。

“熊掌”少女在武汉“瘦足” 双脚由50码变36码 搜狐 2011-2-17 01:29
(普罗蒂斯)综合征,并成功接受了双足矫正手术。术后,第一次穿上女孩子鞋子的她喜极而泣。 Proteus(普罗蒂斯)是古希腊神话中的海神。1983年,德国的一位儿科医生Wiedemann用“普罗蒂斯”名字把“熊掌”病命名为普罗蒂斯综合征,比喻这种疾病的临床表现就像海神普罗蒂斯一样变化多端。...

英国女子患上罕见巨腿症 脚板比肩膀还宽(图) CNET科技资讯网 2009-6-15 09:05
她在网上认识的一位朋友是英国普罗特斯综合征基金会(Proteus Syndrome Foundation U.K)成员。这次偶然的机遇,终于让塞拉斯的病情得到确诊。她通过这位朋友得知,“普罗特斯综合征”又名“变形综合征”,患者的腿和膝盖会出现畸形发育。
"狮面人"患的是变形综合征 现在还没有根治办法 新华网河南频道 2006-5-24 07:29
“变形综合征”英文名为普罗蒂斯综合征,“Proteus”是希腊神话中海神的名字,因这位海神的性格带有“多变”的含义,故取此名字来形容这一怪病的变幻无常。该病的最大特点是只攻击人体的一侧躯体,症状多种多样。...

洛杉矶席达西尼医学中心的临床遗传学主任约翰·格雷厄姆博士说：“这是一种非常罕见的症状。发病率低于一百万分之一。普罗特斯综合征是根据希腊一位能改变自己的形状的神的名字命名的。之所以用这个名字命名，是因为患有这种疾病的人会在孩童时期从看似相对正常的体形，迅速转变成这种令人吃惊的超级肥胖的体形。”

历史上最著名的“普罗特斯综合征”病例是约瑟夫·麦里克，即众所周知的“象人”，麦里克在1890年去世，他的故事经过改编，被拍成一部非常有名的电影。麦里克患的这种疾病对他的头、面部特征、胳膊和腿产生了影响。不同患者可能会有不同身体部位受到影响。医生无法说出这种疾病患者的平均寿命。人们对“普罗特斯综合征”了解的非常少，但是他们认为这不是一种遗传疾病。

新语新闻:Rare Condition Causes Woman to Have Gigantic Legs, Feet
2008-09-10 08:46:05| 分类： 每日新闻 | 标签： |字号大中小 订阅

Rare Condition Causes Woman to Have Gigantic Legs, Feet

Doctors Call Proteus Syndrome a Medical Mystery

By BOB BROWN

Sept. 9, 2008

One of the few things Mandy Sellars wanted out of life was something many people tried to avoid.

Mandy Sellars says she has endured taunts and questions about her abnormally large legs and feet.

(Caroline Borge of ABC News)

"In life, a lot of people don't like to be labeled as this or that or the other," Sellars said. "But all my life, I've been kind of searching for a label for myself."

Watch "Medical Mysteries" Tuesday, Sept. 9 at 10 p.m. ET, and go to ABCNews.com during the show for your chance to be the doctor and diagnose a disease.

The label, she thought, would be the answer to a mystery that her doctors had not been able to solve. "There's been hardly any contact with doctors," she said. "I've been kind of, in my own words, put on the shelf and kind of forgotten about."

Sellars is 33 years old and weighs 285 pounds. Her upper torso is a petite size 8 and accounts for only about 70 or 80 pounds of her weight. The rest is in her legs and feet.

"When I was born, there was a noticeable difference between my upper body and my lower body," Sellars said. "They didn't actually expect me to live further than about a few, a few days or so."

A Tough Job for the Shoemaker
Throughout her childhood, the growth of her legs continued to outpace the rest of her body until she could no longer move on her own. She walks now with the aid of crutches and drives a specially equipped automobile.

Near her home in northwestern England, Sellars goes to a private shoemaker. Her right foot is 16 inches long and 7 inches wide, and her legs are of differing lengths because the left foot -- a club foot, 11 inches long -- faces backward.

So the fittings are delicate. It takes weeks of trial and error to produce the final molds for a pair of boots, and they will cost around $4,000 -- money she has to raise because she is unemployed.

The public's reaction to her has sometimes been brutal. She recalled being heckled once by a gang of youths.

"Just walking through the park with a friend, that's all. And, there must've been three, four, five, teenagers on bikes, or something," she said. "And they just started making the usual kind of comments, you know, 'Oh, my God, look at that.' You know, 'Isn't that disgusting?' And just kind of circling myself and my friend on their bikes. Something like that is very intimidating."

Because her condition remained such a mystery, she often seemed to be on the edge of disaster. In college, she was once suddenly paralyzed because of a blood clot that required 10 weeks of hospitalization. When a plastic surgeon tried liposuction to reduce the bulk in her legs, more tissue grew back than had been removed.

"In my mind, the condition has a mind of its own," Sellars said, "because whatever you take away grows back bigger and bigger."

It was through the Internet that she finally began to get a clue about what her condition might be. A friend of hers came across the site of an organization in Great Britain called the Proteus Syndrome Foundation U.K.. That finally led to a diagnosis, one that Sellars had been waiting years to receive. The unusual growth of her legs and knees was common to people with Proteus syndrome

"This is a very rare disorder. Certainly, less than one in a million," said Dr. John Graham, director of clinical genetics at Cedars-Sinai Medical Center in Los Angeles. "Proteus syndrome is named for the Greek God who could change his form. And because it was such an apt description of how these individuals rapidly change form from appearing relatively normal as young children to this startling overgrowth, the name has remained with the disorder ever since then."

The most famous case of Proteus syndrome in history was that of Joseph Merrick, also known as the Elephant Man, who died in 1890 and was the subject of a well-known movie about his life.

Merrick's condition affected his head and facial features as well as his arms and legs. Different patients may be affected in different areas. Doctors can't say what an average lifespan might be. The syndrome is poorly understood, but it is not believed to be hereditary.

Thinking Ahead

Sellars lives independently in a home that has been only slightly modified for her, but even common household tasks -- fixing a cup of tea -- can be exhausting. She visits a nutritionist, hoping she can lessen the effects of Proteus syndrome through diet, but so far, it hasn't helped.

She has been told that eventually she may need to amputate her legs. She's already considering how she will live her life then and has even thought about entering the London Marathon as a wheelchair racer.

"I'd love to do that," Sellars said, "and hopefully then be able to wheel myself and train hard enough to be able to do that, and raise money for charity that's helped me."

The Elephant Man
aka Joseph Merrick, aka (incorrectly) John Merrick
He was not an animal, he was a human being! Ironically, the one thing he wasn't was an elephant man.
Joseph Merrick suffered from a rare disease which was not actually the elephantiasis that provided his unfortunate nickname. But The Proteus Syndrome Man or even worse, The Neurofibromatosis Man, wouldn't be a very good movie title, so the misdiagnosis probably worked out for the best.

Merrick was born in England in 1862. When he was a toddler, it quickly became clear that something was terribly wrong when disfiguring tumors sprouted on his face.

Merrick believed he had become deformed because his mother was frightened by an elephant. Even considering the science of the day, this was a ludicrous idea, but then again Merrick didn't get the chance to receive a high-quality education.

Merrick's mother died when he was 10. His stepmother couldn't deal with the child's escalating deformity and insisted that his father throw him out on the street. Daddy Dearest complied, and Merrick became a street urchin, albeit a not particularly adorable one.

By the age of 12, Merrick was peddling shoe polish on street corners, where he was exposed to the elements as well as the taunts, bullying and general persecution of his fellow urchins. Later he became a ward of the state, forced to live and work in a welfare sweatshop, making Oliver Twist's problems seem trivial by comparison.

Merrick's face and body were covered with massive lumpy growths, hard tumors made of bone; he looked much like a Play-Doh bust that had been mashed and gouged by a child. A lackadaisical attempt to cut away some of the excess growth failed, and Merrick's deformity grew.

Everywhere he went, crowds gathered around to gape at his deformities, without paying so much as a dime. Putting two and two together, Merrick decided to pursue the most obvious career choice that lay before him -- sideshow freak. If he was going to be a spectacle, he could at least profit from the process.

Despite popular myths about the Elephant Man, Merrick wrote in a short autobiography that his time as a sideshow freak wasn't particularly sordid or hurtful. Real life was hurtful. In the sideshow, Merrick said, he was treated only with the "greatest kindness."

Many misconceptions about Merrick's life stem from the popular 1980 movie, The Elephant Man (directed by David Lynch), which depicts Merrick as a lost soul who was abused at the sideshow and deprived of his dignity, which he was then forced to laboriously reclaim, uttering at one point, "I am not an animal! I am a human being!"

The movie lays waste to Merrick's dignity far more comprehensively than anything that happened in his real life. Merrick appears to be unable to communicate (in life, he had difficulty speaking because of tumors on his jaw, but he could write very serviceably). The circus owner, whom the real Merrick considered a kind friend, is painted as a drunken bully. The movie even got his name wrong, calling him John Merrick (repeating an earlier chronicler's mistake).

Merrick's time with the sideshow went quite well, according to his own account, but ended on a sour note when the money he had been saving was stolen by a crooked promoter in Belgium. Penniless and in declining health, Merrick returned to England.

Merrick's appearance precipitated a mob scene. When police answered the call of public disturbance, they found a card for Dr. Frederick Treves and deposited Merrick at the London Hospital.

Treves was a physician who had visited the sideshow a few years earlier in order to study the Elephant Man's affliction. A prominent anatomy specialist, Treves would later be knighted for his glorious efforts in performing a routine appendectomy on King Edward VII. Treves initially diagnosed Merrick with elephantiasis, a disease in which the lymphatic system goes nuts and large, hard tumors grow around the legs and genitals.

Merrick's deformity continued to grow unchecked. In addition to the huge, boney tumors on his head -- which eventually reached a circumference of three feet -- a constellation of tumors sprouted all over his body, some hard, some soft, some just right. His left arm was normal to all appearances, but the rest of his body slowly distorted into phantasmagoric shapes, even more uncomfortable to possess than they were to see.

Despite Treves' care, Merrick's health declined because of his disease, and he slipped into a rather understandable state of depression. Treves collected donations and solicited volunteers to provide care for Merrick when the hospital refused to foot his bills.

After the newspapers had their way, Merrick grew a bit of celebrity, his hospital room pupating into a classy sideshow. Members of the royal family and other nobility coming to pay their respects and do whatever inbred aristocrats do instead of gawking like yokels.

Merrick wanted nothing more than to emerge into the world again, and in 1889, he took a six week vacation out in nature, far away from the prying eyes of the public.

Although his life had been filled with clamor, his death came quietly. Merrick died in bed at the age of 27. Through his life, Merrick had slept in an upright position because of his deformities, but on the night of April 11, 1890, he lay down on his back in bed and apparently asphyxiated from the weight of his chest.

象人的本名叫约瑟夫·梅立克，出生于一八六二年的英国。由于他身体有严重的畸形，马戏团便把他称为“象人”以招来顾客。在马戏团中他受了许多不人道的待遇，幸好后来遇到了一位姓崔维斯的医生，这位医生不仅给了他许多的帮忙，同时也将他的病情做了详细的描述。象人的故事曾经被搬上舞台及电影，也引起过一阵子的象人热。象人患的到底是什麼病 ，一百多年来也是大家想揭开的谜底。
其实象人出生时并没有明显的异常，他的父母亲也没有皮肤上的病变。他身上的肿块 是从一岁多开始渐渐长出来的。除了皮肤上的肿瘤之外，他的头部也因骨头的增生而 变得很大，根据报告他的头围就有三十六英寸。此外他的右上肢及足部都有异常膨大的现象。自从一九零九年有人提出象人可能是神经纤维瘤的患者后，大家也就习以为常的把象人与神经纤维瘤划上了等号。
神经纤维瘤的患者身上虽然也会冒出许多大小不等的肿瘤，甚至有些地方也有可能形成较大的丛块型神经纤维瘤，但是象人的临床特征是与一般神经纤维瘤的患者有所不同的，而事实上也从来没有组织病理的报告证 实他身上的病变是神经纤维瘤。另外在百分之九十九以上神经纤维瘤的患者身上可发 现的咖啡牛奶色斑，皮肤科医师也并没有在他的身上找到过。
随著愈来愈多类似象人的病例被报告出来，加上学者对於象人的骨骼及临床特征不断的研究，象人患的是什麼病也逐渐的水落石出了。其实象人患的是一种叫做“普洛提斯”症候群 ( Proteus Syndrome)的病。普洛提斯是希腊神话中的海神，相传能变形成不同的野兽和怪物。使 用这个名称的人，不外乎是希望人家能'望文生义'。这种病属于一种复杂的赘生性疾病， 主要的特征包括了大头、颅骨增生、长骨变形、肢体膨大、皮肤及皮下组织的肿瘤(包括脂肪瘤， 血管瘤，淋巴管瘤)等。
总之，把象人与神经纤维瘤连在一起是不正确的。象人患的病其实不是神经纤维瘤， 长久以来把象人套用在神经纤维瘤患者身上，更是有损他们的尊严。发生在象人身上 的悲剧，我们希望不要再重演，对於那些身体畸形的同胞，我们更应该发挥悲天悯人的胸怀，给予尊重与扶持。问题补充：

快 又快又准确 好的有加分

The capital resembling person is called Joseph · Mei Li Ke , United Kingdom who is born on 1862. Since his body has grave deformity , circus troup just him to be called "resemble person " to confess coming to a customer. He has accepted a lot of inhuman pay in circus troup , has come across one family name Cui Wei luckily afterwards this doctor, the state of illness that this doctor has given his lots of help , at the same time not only also with him has made detailed description. The story resembling person had once been moved to the stage and film, fever of have also aroused the elephant a period of time people. Resembling person trouble's is that miscellaneous ? N falls ill after all , hundred is also that everybody thinks of the answer to riddle lifting up for many years

The parents who resembles person in fact when being born and does not have obvious anomaly , his neither has upper lesion of skin. His on one's body phyma is to grow out gradually from one-year-old is many. Except upper tumour of skin, his head also becomes very big because of bone's hyperplasia , his head surrounds according to the report to have thirty-six inches right away. His right upper limb and the foot part all have the phenomenon expanding extraordinarily besides. Since somebody suggests that the elephant people may be that everybody is accustomed also right away behind nerve fibroid tumor patient, with the elephant people and nerve in 1909, the fibroid tumor has transferred equal mar

Tumour differing in size nerve fibroid tumor patient on one's body though also may give off many, some places also are in the cards forming bigger thicket piece type nerve fibroid tumor even , resembling people's clinical characteristic is that the patient with general nerve fibroid tumor has the what different, be but not organize pathological mechanism in fact also all along report to demonstrate his on one's body lesion is a nerve fibroid tumor but. Another coffee milk fleck finding that on all above nerve fibroid tumor patient in 99%, the dermatologist had found on not also being member of him.

In short ,that the fibroid tumor joins the elephant people and nerve together is incorrect. Resembling the disease that person suffers from is not a nerve fibroid tumor in fact , the elephant people is applied mechanically on nerve fibroid tumor patient since long , also is the dignity being harmful to they. Tragedy on elephant person happened, our hope does not replay again , we ought to bring the breast bewailing the times and pitying the people into play more , give to those abnormal body fellow countrymen, respect and support.