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All About Congenital Melanocytic Nevi（关于先天性黑素细胞痣）What is a Congenital Melanocytic Nevus (CMN)?（什么是先天性黑素细胞痣）Nevus (also spelled naevus; plural, nevi or naevi) in the broad sense, means “birthmark”, and can be used to describe virtually any mole or birthmark. （痣在广义上说，是指“胎记”，并且事实上可以被描述成胎块或者胎痣。）If it is present at birth, it is called congenital. One in every 50 to 100 people is born with a small CMN. If a birthmark is caused by a pigment-producing cell, it is called a pigmented or melanocytic nevus. Congenital Melanocytic Nevican range in size from the small, common ones the size of a pinhead, up to large, rare forms that cover much of the body surface. The largest ones are described medically as giant nevi, and happen approximately once in every 20,000 births; the larger they are, the rarer.（如果在出生时就有，它被称为先天性的，每50-100个出生的人中就有一个带有小面积的先天性黑素细胞痣；如果胎记是由黑色素细胞引起,被称为色素或黑素细胞痣；先天性黑素细胞痣的大小，可以从针头那么小到大到覆盖身体表面的大部分，最大的在医学上称为巨痣，每20000出生的人中大约就有一个发生，痣面积越大，数量就越稀少）。What does aCongenital Melanocytic Nevus look like? （先天性黑素细胞痣是什么样子的？）Every congenital melanocytic nevus is unique. People of all races and colors of skin can be born with one.CMN generally grow in proportion to the child. In other words, they will usually continue to cover the same proportional part of the body surface as at birthfor instance, a part of a limb, or extending between the shoulder blades and the upper thigh. （每个先天性黑素细胞痣都是独一无二的，所有种族和皮肤颜色的人都可以发生。先天性黑素细胞痣与患者成比例的生长，换句话说，就是他么会继续覆盖出生时身体表面相同比列的地方，比如，肢体的一部分，或延伸的肩胛骨和大腿之间。）Rare exceptions to this are “tardive” congenital melanocytic nevus, as these become visible after birth and can therefore appear to grow. Occasionally, where part of aCMN is very pale, it can darken during the first few months and thus appear to grow. The size that aCMN will end up can therefore be estimated from the size at birth by looking at its size and where it is located.（罕见的例外是“迟发性”先天性黑素细胞痣，它们在出生时就是可见的，并且可能会增长。偶尔，CMN颜色浅的地方，在出生后的前几个月里会变黑且会增长，它们的最终大小是可以从出生时的大小和着生位置推测出来的。）Site: Congenital melanocytic nevi can be on any part of the skin, including palms, soles and scalp, and even inside the mouth. （位置：CMN可以出现在皮肤的任何地方，包括手掌、脚底、头皮，甚至出现在口腔里面）Color: Usually some sort of shade of brown to black, sometimes congenital melanocytic nevi can be reddish. It is often very mixed inside the nevus, with smaller patches of different colors on a solid background.CMN at birth are often deep black, or even dark purple/red as they have many blood vessels visible through a thin surface. They can change color over time, as the child grows. When they change, they usually become paler, but can also become darker for those that were initially light or speckled. Lightening appears to happen more in children with light or red hair and pale skin than in those with darker hair and skin tone. （颜色：通常是某些形式的从棕色到黑色的阴影，有时是偏红色的。它往往是很复杂的内部的痣，拥有小的不同颜色的斑块。CMN在出生时通常是深黑色的，甚至是暗紫色/红色的，同时，可见很多血管通过薄薄的皮肤表面。它们随着时间的推移、孩子的成长是可以改变颜色的。当它们改变颜色的时候，通常是变得更浅一些，但是对于那些一开始较浅或呈斑点状的可能颜色会加深。通常情况下，拥有浅色或红色头发和苍白皮肤的患者比拥有较深的头发和肤色的患者更容易发生颜色减轻的情况）Hairiness: Congenital melanocytic nevi usually have hair growing out of them, although this is often not visible at birth and can remain unnoticeable throughout life. The hair color can be darker than the childs head hair, or the same, or very occasionally lighter. If aCMN is on the scalp, there is usually more luxuriant hair growth over the lesion and the hair grows faster than on the rest of the scalp. Body CMNbe they small or largecan develop terminal hair, which is more visible and often dense. Occasionally,congenital melanocytic nevus are completely hairless, even ones that occur in the scalp, or can have patchy hair loss or hairs without pigment (grey or white hair). （毛发：CMN通常会长出毛发，尽管在经常情况下有些毛发在出生时是不可见的并且有可能在一生中不是很明显。毛发的颜色有的比孩子的头发颜色更深，或者相同，或者偶尔会浅一些。如果CMN生长在头皮上，通常病变部位会长出更多的头发，并且会比正常部位的头发生长的更快。身体上的CMN（不管它们大或小），可以长出更为明显和通常比较密集的毛发。偶尔，CMN是完全无毛发的（即使在头皮上发生），或者会呈斑块状脱发，或者毛发没有颜色（灰色或白色的）。）Texture: The texture of large congenital melanocytic nevi tends to be different from that of normal skin, sometimes being softer, looser and more wrinkled. TheCMN can be nearly flat or can be very folded or lumpy. （纹理：大的CMN纹理往往不同于正常的皮肤，有时更柔和、松散或者更多褶皱的，CMN的表面可以使几乎平整的，或者是非常褶皱的，或者是呈块状的。）Number: The total number of visible nevi can continue to increase after birth, although this does not always happen. When it does, they often develop most during the first few years of life, when the rate of appearance of different ones then usually tapers off. However, they are always relatively small. Such “new” nevi, sometimes called “satellites”, are considered by doctors to also be tardive. That is, they may have already been there as scattered, unpigmented congenital melanocytic nevi at the time of birth. Appearance of these additional nevi is more likely to occur in children with very large and multiple CMN, but in themselves are not a reason for concern. （数量：可见痣的总数可以继续在出生后增加，尽管这并不总是发生。如果是这样，它们大多发生在最初的几年里，然后其发生的几率会通常逐渐减少。然而，新长出的痣往往都非常小，这种新的痣（有时被称为“卫星”）也包括医生所认为是迟发性的痣，也就是说，那些还没有显示出颜色的黑素细胞痣在孩子出生的时候就已经分散在皮肤里面了。这些额外痣的出现很有可能发生在那些拥有巨痣或多种痣的孩子中，但其本身并不是一个值得关注的理由）What Causes Congenital Melanocytic Nevi? Research into the molecular and embryological causes ofcongenital melanocytic nevus has made great strides in the past few years! Check back here for more details summarizing these findings. For highly in-depth proceedings, you can apply to your patient association representative for access to the 2013 CMN Expert Meeting slidecasts or copies of other publications of interest to you, or read a selection of relevant primary publications uploaded to the RE(ACT) Community for rare and orphan diseases. （导致先天性黑素细胞痣的原因是什么？从分子胚胎学方面进行先天性黑素细胞痣产生原因的研究，在过去几年中取得了长足的进步（通过对这些研究进行细致的查看总结）。为了更为深入的了解相关进展，你可以向病人协会代表申请索要2013年CMN专家会议幻灯片或你所感兴趣的出版物复印件，或者阅读一些选择上传到RE（ACT）社区的相关原始出版物，以了解哪些稀有和罕见的疾病）Medical Challenges（医学挑战）Cutaneous Problems（皮肤问题）Fragility: Many congenital melanocytic nevi are more delicate than normal skin, especially in newborns. They can therefore tear more easily if they are knocked or scraped. However, they do not bleed any more than normal skin, and they tend to heal well with minimal scarring. Treat as any superficial scrape or wound on non-nevus skin, cleaning with soap and water, and use of an antiseptic ointment and a bandage.(脆弱：许多CMN比正常皮肤更脆弱，特别是在新生儿中。因此这些皮肤如果被碰到或刮擦到更容易破裂。然而，它们流血不会超过正常皮肤，并且它们往往愈合的很好（疤痕很小），可以把它们当做无痣皮肤的擦伤或伤口进行处理，用肥皂和水清洁，并用防腐软膏涂抹和绑带包扎。)Dryness: Some congenital melanocytic nevi are drier than the surrounding skin, need to be washed without soap, and moisturized regularly (your doctor can advise you on this). Occasionally,CMN are very itchy. This can be due to dryness, too rich a cream to treat the dryness, eczema in the nevus, or sometimes for no apparent reason (though this is a subject of current research). Such itchiness can usually be relieved using prescription creams and ointments, cold pack treatment, baths in corn starch or colloidal oatmeal, or vibrations.（干燥：有些先天性黑素细胞痣比周围的皮肤干燥，洗涤的时候不能用肥皂，并且要定期滋润（你的医生会告诉你这一点）。偶尔，CMN会非常的痒，这可能是由于干燥、用了太多的霜、长了湿疹，并且有时候并没有明显的原因（尽管这是当前研究的一个主题）。这种痒一般可以用处方药膏和药膏，冷敷处理，玉米淀粉或胶体燕麦片洗浴，或震动缓解） Decrease in subcutaneous fat: This is usually only seen with larger congenital melanocytic nevi. For some reason, the presence of theCMN interferes with setting up the layer of fat that is normally present between the skin and underlying muscle and bone. This can result in the nevus appearing to be depressed below the general skin surface, the limb, buttock or side of the face, and appearing obviously thinner than normal. The thinner area functions just as normalfor example, a thinner leg will be perfectly strong, as the thinness is only due to less fat and not less muscle. （皮下脂肪减少：这种情况通常只出现在较大的先天性黑素细胞痣中。由于某种原因，CMN的存在会干扰皮肤和肌肉、骨骼之间的脂肪层的建立，这会导致长痣的部位显得低于正常的皮肤表面、四肢、臀部或脸部的一侧，并且明显比正常的部位薄。皮肤较薄的部位功能是正常的，例如，一条瘦的腿会表现的更强壮，因为瘦是由于缺乏脂肪而不是缺乏肌肉导致的）Absence of sweat glands:Although not systematic, the largest or bumpy forms of congenital melanocytic nevi can sometimes have fewer sweat glands within the nevus. Thus, theCMN owner can have problems with overheating on warm days or during sports activities.One solution is to bring moisture to the outside of the skina wet hat or T-shirt, or water in a spray bottle, can help replace the difficulty in sweating by allowing evaporation from the surface affected. Other areas of the body may sweat more in compensation, so internal hydration through drinking more water is also important.（缺少汗腺：尽管研究还不够系统，巨大的或表面崎岖不平的CMN经常会含有更少的汗腺，因此，CMN患者可能在天气过热的温暖日子或在运动期间存在一定的问题，一个解决方法是保持皮肤表面的湿润-潮湿的帽子或T恤、可以喷水的瓶子，即通过使受影响的皮肤表面进行水分蒸发以用来取代有困难的汗腺，其它部位的正常汗腺可能会增大出汗量来进行补偿，所以通过喝更多的水以保持身体内部的水合作用是非常重要的）Neurological Problems（神经系统问题）Problems in the brain or spinal cord are the most common serious complication seen in children with congenital melanocytic nevus. Because the pigment cells found in the skin and (yes, normally in) the meninges develop from the same cells as the brain in the early embryo, people withCMN can also have differences in their brain or spinal cord. Approximately one in fifteen to twenty people with large and giant forms ofCMN have excess pigment cells in the brain or spinal cord. This can lead to a complication known as neurocutaneous melanocytosis (NCM). Earlier studies often used the term “melanosis”the first means more pigment cells, and the second means more pigment. The difference is not easy to determine non-invasively.( 大脑或脊髓存在问题是最常见的严重并发症，对于那些患有先天性黑素细胞痣的儿童来说。因为皮肤中的色素细胞和脑膜都是发育自相同的细胞，当时大脑正处于早期的胚胎中，患有CMN的人其大脑或脊髓也是存在差异的。大约每15-20个患有大型或巨型的CMN患者中，就会出现一个在大脑或脊髓中含有过量色素细胞的人。这会导致产生一种被称为神经性皮肤色素增生症（NCM）。早期的研究中经常使用的“黑素沉着病”这一术语 ， 第一意思是含有很多色素细胞，第二个意思是颜色深的。不同的是不容易确定它的非侵入性)Other much rarer problems include benign brain or spinal tumors or cysts, too much fluid in the brain (hydrocephalus), or abnormal brain structure. All of these neurological problems are more common with larger and more numerous CMN, but there is no connection with the site of the CMN. In other words, having acongenital melanocytic nevus overlying the brain or spine does not increase the chance of having neurological problems.(其它罕见的问题包括脑或脊髓肿瘤和囊肿，脑中有很多液体（脑积水），或不正常的大脑结构。所有的这些神经系统的问题随着CMN的大小和数量发生的几率会越大，但是和CMN的位置还没有必然的联系，换句话说，在脑部或脊柱上患有CMN并不会使神经系统问题的几率增大。)Should a Person with a CMN have Magnetic Resonance Imaging (MRI)? （CMN患者应当要做磁共振成像吗？）Current recommendations in the U.K. and some, but not all, other countries, are that any child born with two or morecongenital melanocytic nevus in any location should have a routine MRI scan of the brain and spine, preferably by the age of six months, though there is no strict cut-off age. It is not possible to say that MRI abnormalities could never occur in children with only one CMN at birth, but the likelihood is much less. Minimal recommendations for MRI settings can be downloaded as aprintable sheet here, and can be brought with you to give the neuroradiologist.（目前的一些建议在英国和其它一些国家（但不是所有的），是任何身上长有2个或更多CMN的患者，无论痣长在什么位置，都应该去做一个常规的大脑和脊柱MRI扫描，而且最好是在6个月的时候去做，虽然没有严格的截止年龄限制。这不是说磁共振异常不会发生在出生时只有一个CMN的患者身上，但是这种异常几率是非常小的。磁共振成像的最低建议设置参数可以下载，并且你可以将它给予神经放射学家作为参考）The overall chance of finding any kind of abnormality on brain and spinal MRI scan in children with large and multiple CMN may be as high as 25%, but only around half of these will have any actual neurological problems.Things to look out for include: epileptic convulsions (fits/seizures), developmental delay, limb coordination issues, frequent vomiting or headaches not linked to an infection or fever, and tiptoeing or late bed-wetting, which can be signs of a tethered spinal cord. (And which are also quite frequent in children and should not alarm you.)（在患有大型和混合CMN孩子的大脑和脊柱中发现异常的几率高达25%，但是只有大于一般的患者会出现实质上的神经系统问题。要注意观察的问题包括：癫痫抽搐（一阵/痉挛）、发育迟缓、肢体协调问题、频繁呕吐或头疼（非感染和发烧引起）、经常遗尿，这些都是可以作为脊髓出现问题的特征。（这些问题在孩子小的时候都会出现，你不必担心）It is possible to have problems in development even when the scan is normal, but these tend to be milder. The reason for doing the scan is to pick up the rare cases of tumors, cysts and extra fluid on the brain that require an operation, and to allow more careful neurological monitoring of those children with MRI findings. The pigment cells in the brain or spine cannot currently be treated themselves, but the epilepsy that sometimes occurs in NCM can respond to conventional medication and surgical approaches, as can a tethered spinal cord or cysts.（在发育的过程中很可能会出现问题，即使当时MRI扫描时正常的，但是这些问题往往不是很大。做MRI扫描的原因是为了发现那些需要手术的大脑和脊髓肿瘤、囊肿或积水患者，并且可以利用MRI扫描对那些患者做更细致的神经学监测。）We also recommend that children with congenital melanocytic nevi larger than 20 cm (8 inches) projected adult diameter be followed up regularly to watch their neurological development, even if they do not have more than one nevus. In addition, any child with any type ofCMN who has neurological symptoms like those described above should have an MRI.（我们也建议患有预测成年直径达20cm的CMN儿童应当定期对神经系统发育情况做检查，即使他们只长有一个痣。另外，患有上述描述特征之一的任何形式的CMN儿童都应当做一个磁共振成像）These neurological problems tend not to afflict adults withCMN if they had not started during childhood or adolescence.(这些神经系统问题一般不会对成年CMN患者产生影响，如果神经问题没有在童年期或幼年期发生的话。)Malignant Melanoma（恶性黑色素瘤）Melanoma is a cancer of melanocytes, the skin cells which produce pigment and which make up congenital melanocytic nevus. It used to be thought that melanoma was very common in people with CMN, but we now know that it is rare, occurring in around 1-2% of all people with CMN over their lifetime. However, the risk is higher in people with very large and numerous CMN, perhaps as much as 10%, and there is a peak of risk during childhood. When considering these risks, you need to bear in mind that a person without a CMN still has a risk of about 40% of developing some kind of malignant cancer at some time in his or her lifetime.（黑色素瘤是黑色素细胞的癌症，而这些黑色素细胞是皮肤上的产生色素和组成CMN的细胞。在过去黑色素瘤被认为是非常普遍存在于CMN患者中，但是我们现在知道这种情况是很少就见的，在所有CMN患者的一生中其发生的概率大约为1-2%。然而，那些患有非常大的或数量众多的CMN人群，其患病风险会越大，或许高达10%，并且在童年期达到顶峰。当考虑这些风险的时候，你应当记住一个非CMN患者仍然有高达40%的风险在他的或她的一生中的某个时候患上某种癌症。）Melanoma in people withcongenital melanocytic nevus can occur anywhere, not just within the CMN, and not just in children. It can present as a lump in the CMN, in another area of skin, or in the lymph nodes (which are throughout the body). However, melanoma is rarely if ever found in a disseminated “satellite” nevus. In about half the cases, it occurs directly within the brain or spine, when it can present with persistent headaches with nausea/vomiting, or visual disturbances, balance problems or seizures, like other tumors.（黑色素瘤可以在CMN患者身体的任何部位发生，不是仅发生在CMN上，也不是仅发生在童年时期，它可以以一个肿块的形式出现在CMN上，其它皮肤区域，或淋巴结上（会遍及全身体），不管怎样，在星状分布的痣中很少发现黑色素瘤。大约一半的病例发生在大脑或脊柱中，伴随有持续性头痛、恶心/呕吐，或视觉障碍，平衡问题或痉挛发作等像其他肿瘤一样出现的问题。）Unfortunately, when malignant melanoma occurs in a person with a congenital melanocytic nevus, it is often aggressive and difficult to treat. Our recommendations are that any rapidly changing area should be reviewed by an experienced doctor, who can decide whether a biopsy is required. Do remember however, that nodules, lumps and color changes appear frequently in congenital melanocytic nevi, and they are almost as frequently, completely harmless. Serial photographs, the use of dermoscopy, palpation of nevus and scars, examination of lymph nodes and a thorough review of systems may aid physicians in early detection of melanoma. Also, only experienced pathologists can avoid the trap of finding a growing CMN nodule “melanoma-like”; if such a report comes to you, it is worth asking for a second opinion.（不幸的是，当恶性黑色素瘤发生在一个患有CMN的人身上时，它往往具有较强的侵略性，很难处理，我们的建议是对那些迅速变化的区域应该由经验丰富的医生进行检查，他可以决定是否需要进行活体组织切片检查。一定要记住，结节、肿块和颜色变化屡屡出现在先天性黑色素细胞痣上时，这几乎是无害的。连续的照片，使用皮肤镜检查，痣和疤痕的触诊，淋巴结检查和一个彻底系统的检查，会有助于医生发现早期黑色素瘤。此外，只有经验丰富的病理学家可避免掉入发现生长中的先天性黑素细胞痣瘤（肿瘤状的）的陷阱中，如果你有这份报告，这也是一个值得寻找的第二个意见）We recommend that children who develop any new neurological problems such as recurrent headaches, visual disturbances, seizures, or developmental changes should be seen urgently by specialist doctors, such as a pediatric neurologist and a neuroradiologist, in a multidisciplinary institution if at all possible.（我们建议那些出现新的神经学上问题的人，例如经常性头痛，视觉障碍，癫痫发作，或发育改变等症状，应当立即去看专科医生，如看小儿神经科医生或神经放射科医生，和各种相关的医学科室医生（如果有需要的话）。）Psychological Challenges（心理学挑战）People with congenital melanocytic nevi sometimes attract looks, stares, whispering and finger-pointing.（患有先天性黑素细胞痣，有时会引起关注，凝视，窃窃私语和指指点点。Children who grow up with a prominent congenital melanocytic nevi or many congenital melanocytic nevi may well have problems adjusting to the disfigurement that they perceive, particularly during the teenage years. This, however, is a very individual thing, and varies depending on the childs personality and on the support from family and friends. The problems may manifest as anxiety, depression, or lowered self-esteem.（那些患有明显的CMN或者许多CMN的孩子很有可能不适应他们所意识到的自身缺陷，特别是在青少年时期。然而，这是一个非常个人化的问题，取决于孩子的性格和家庭、朋友的支持理解。这些问题可能表现为焦虑，抑郁，或自尊心降低。）Family members sometimes hope that a nevus will fade and the other potential medical challenges will also disappear. Some large congenital melanocytic nevi can lighten over time, but the birthmark itself, and potential challenges, remain. This reality requires not only the person with the CMN, but also their loved ones, to take some time to adapt.（家庭成员有时希望痣会褪色，其它的医疗挑战消失。一些大的先天性黑素细胞痣随着时间的推移可以减轻，但胎记本身，其潜在的挑战依然存在。这种现实不但需要CMN患者本身，而且需要他们所爱的人，花一些时间来适应）It would be ideal if we were able to offer all people at risk some degree of automatic counseling during their childhood, and accompaniment to support their families as well. Some major hospitals (Great Ormond Street, London U.K.; Hpital Necker Enfants Malades, Paris, France; University Childrens Hospital, Zrich, Switzerland) currently have a psychology service available for theirCongenital Melanocytic Nevus patients. However, not all families want psychological input, and many hospitals and most private settings do not have this facility.（这将是非常理想的事情，如果我们能为所有有风险的人群在它们童年时期提供主动的咨询服务，并伴随着对其家庭的支持。一些主要的医院（英国伦敦大奥蒙德街医院、法国巴黎Necker Enfants Malades医院，瑞士苏黎世大学儿童医院）目前已可为他们的患者提供适合的心理服务。然而，并非所有的家庭都想在心理咨询上开支，并且